Kevin M Flanigan

Contact Information

Call us at: (614) 722-4625

Fax us at: (614) 722-4633

PediatricsNeurology700 Children’s DrColumbus, OH 43205 (map)

Learn more about Kevin M. Flanigan

Biography

Kevin M. Flanigan, MD, is the Robert F. and Edgar T. Wolfe Foundation Endowed Chair in Neuromuscular Research at Nationwide Children’s Hospital, and Professor of Pediatrics and Neurology at The Ohio State University College of Medicine. Certified by the American Board of Psychiatry and Neurology in both Neurology and Neuromuscular Medicine, Dr. Flanigan is director of the Center for Gene Therapy in The Research Institute at Nationwide Children’s and a leading expert in neuromuscular disorders. He also leads the world-class Neuromuscular Disorders program at Nationwide Children’s, which provides coordinated care with pediatric experts from more than a dozen specialties. Dr. Flanigan earned his medical degree from Rush Medical College and completed his internship at the University of Michigan Health System before completing his Neurology residency and fellowship in Neuromuscular Disorders at the Johns Hopkins Hospital, and an additional post-doctoral laboratory fellowship in Human Molecular Biology and Genetics at the University of Utah. His primary research interest is in the genetic and molecular characterization of inherited neuromuscular diseases, and the development of therapies directed toward these diseases. A major focus of his laboratory concerns genotype/phenotype correlation in the dystrophinopathies, with the intention of increasing our understanding of the pathogenesis in this disease and translating this understanding into improved therapies. An experienced clinical trialist, he has sponsored three investigator-initiated IND applications for first-in-human gene therapies for Duchenne muscular dystrophy and Sanfilippo syndrome. He is a member of the Executive Board of the World Muscle Society, and a past chair of TREAT-NMD, the international neuromuscular disease consortium.

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Academic and Clinical Areas

Center for Gene Therapy

Director

Neuromuscular Disorders

Director

Kevin Flanigan Lab

Principal Investigator

Neurology

Physician Team

Neurology Residency

Faculty

Primary Department

Pediatrics

Primary Section

Neurology

Awards, Honors & Organizations

Listed, Best Doctors in America Member, Executive Board of the World Muscle Society, 2001 - Present Editorial Board Member, Neuromuscular Disorders Founder, Nationally-Recognized Nationwide Children’s Hospital and The Ohio State University Annual Myology Course Incoming Chair, TREAT-NMD: an International Network for the Neuromuscular Field Founding Editor, PLoS Currents Muscular Dystrophy

Research

Lab(s)

Center for Gene Therapy

Publications

                  Flanigan KM, Vetter TA, Simmons TR, Iammarino M, Frair EC, Rinaldi F, Chicoine LG, Harris J, Cheatham JP, Cheatham SL, Boe B, Waldrop MA, Zygmunt DA, Packer D, Martin PT. A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2. Mol Ther Methods Clin Dev. 2022 Dec 8; 27: 47-60.

                


                  Gushchina LV, Vetter TA, Frair EC, Bradley AJ, Grounds KM, Lay JW, Huang N, Suhaiba A, Schnell FJ, Hanson G, Simmons TR, Wein N, Flanigan KM. Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy. Mol Ther Nucleic Acids. 2022 Dec 13; 30: 479-492.

                


                  Wein N, Vetter TA, Vulin A, Simmons TR, Frair EC, Bradley AJ, Gushchina LV, Almeida CF, Huang N, Lesman D, Rajakumar D, Weiss RB, Flanigan KM. Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse. Mol Ther Methods Clin Dev. 2022 Sep 8; 26: 279-293.

                


                  Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, FOR-DMD Investigators of the Muscle Study Group., Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA. 2022 Apr 19; 327: 1456-1468.

                


                  Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM. Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy. Hum Mutat. 2022 Feb 14;  

                


                  Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, Previtali S, Flanigan KM, Italian DMD Network and the United Dystrophinopathy Project (UDP).. Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications. Neurology. 2021 Dec 22;  

                


                  Vetter TA, Nicolau S, Bradley AJ, Frair EC, Flanigan KM. Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies. Neuropathol Appl Neurobiol. 2021 Nov 30;  

                


                  McDonald CM, Wei LJ, Flanigan KM, Elfring G, Trifillis P, Muntoni F, ACT DMD Clinical Evaluator Training Group., ACT DMD Study Group.. Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment. Muscle Nerve. 2021 Nov; 64: 614-619.

                


                  Wein N, Dunn DM, Waldrop MA, Gushchina LV, Frair EC, Weiss RB, Flanigan KM. Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications. Hum Gene Ther. 2021 Nov; 32: 1346-1359.

                


                  Gushchina LV, Frair EC, Rohan N, Bradley AJ, Simmons TR, Chavan HD, Chou HJ, Eggers M, Waldrop MA, Wein N, Flanigan KM. Lack of Toxicity in Nonhuman Primates Receiving Clinically Relevant Doses of an AAV9.U7snRNA Vector Designed to Induce DMD Exon 2 Skipping. Hum Gene Ther. 2021 Sep; 32: 882-894.

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  Simmons TR, Vetter TA, Huang N, Vulin-Chaffiol A, Wein N, Flanigan KM. Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping. Mol Ther Methods Clin Dev. 2021 Jun 11; 21: 325-340.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Stephenson AA, Flanigan KM. Gene editing and modulation for Duchenne muscular dystrophy. Prog Mol Biol Transl Sci. 2021; 182: 225-255.

                


                  Apkon S, Kinnett K, Cripe L, Duan D, Jackson JL, Kornegay JN, Mah ML, Nelson SF, Rao V, Scavina M, Wong BL, Flanigan KM. Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019. J Neuromuscul Dis. 2020 Dec 22;  

                


                  Miller NF, Alfano LN, Iammarino MA, Connolly AM, Moore-Clingenpeel M, Powers BR, Tsao CY, Waldrop MA, Flanigan KM, Mendell JR, Lowes LP. Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests. Pediatr Neurol. 2020 Dec; 113: 15-20.

                


                  Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F, PTC124-GD-007-DMD Study Group., ACT DMD Study Group., Clinical Evaluator Training Groups.. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020 Oct; 9: 973-984.

                


                  Barthélémy I, Calmels N, Weiss RB, Tiret L, Vulin A, Wein N, Peccate C, Drougard C, Beroud C, Deburgrave N, Thibaud JL, Escriou C, Punzón I, Garcia L, Kaplan JC, Flanigan KM, Leturcq F, Blot S. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation. Skelet Muscle. 2020 Aug 7; 10: 23.

                


                  Koboldt DC, Waldrop MA, Wilson RK, Flanigan KM. The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy. Ann Neurol. 2020 Apr; 87: 487-496.

                


                  Abreu NJ, Koboldt DC, Gastier-Foster JM, Dave-Wala A, Flanigan KM, Waldrop MA. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. Am J Med Genet A. 2020 Mar; 182: 557-560.

                


                  Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 Mar; 41: 632-640.

                


                  Waldrop MA, Yaou RB, Lucas KK, Martin AS, O'Rourke E, FILNEMUS., Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan KM. Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. J Neuromuscul Dis. 2020; 7: 217-229.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Waldrop MA, Flanigan KM. Update in Duchenne and Becker muscular dystrophy. Curr Opin Neurol. 2019 Oct; 32: 722-727.

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Johnston TP, Cripe LH, Mah ML, Moore-Clingenpeel M, Young C, Flanigan KM, Mendell J, Hor KN. Young Becker Muscular Dystrophy Patients Demonstrate Fibrosis Associated With Abnormal Left Ventricular Ejection Fraction on Cardiac Magnetic Resonance Imaging. Circ Cardiovasc Imaging. 2019 Jul; 12: e008919.

                


                  Connolly AM, Zaidman CM, Golumbek PT, Cradock MM, Flanigan KM, Kuntz NL, Finkel RS, McDonald CM, Iannaccone ST, Anand P, Siener CA, Florence JM, Lowes LP, Alfano LN, Johnson LB, Nicorici A, Nelson LL, Mendell JR, MDA DMD Clinical Research Network.. Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy. Muscle Nerve. 2019 Jun; 59: 650-657.

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Xu R, Jia Y, Zygmunt DA, Cramer ML, Crowe KE, Shao G, Maki AE, Guggenheim HN, Hood BC, Griffin DA, Peterson E, Bolon B, Cheatham JP, Cheatham SL, Flanigan KM, Rodino-Klapac LR, Chicoine LG, Martin PT. An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK.GALGT2 to Leg Skeletal Muscles in the Rhesus Macaque. Mol Ther Methods Clin Dev. 2018 Sep 21; 10: 89-104.

                


                  McDonald CM, Wong B, Flanigan KM, Wilson R, de Kimpe S, Lourbakos A, Lin Z, Campion G, DEMAND V study group.. Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy. Ann Clin Transl Neurol. 2018 Aug; 5: 913-926.

                


                  Weiss RB, Vieland VJ, Dunn DM, Kaminoh Y, Flanigan KM, United Dystrophinopathy Project.. Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. Ann Neurol. 2018 Aug; 84: 234-245.

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018 May 10; 19: 291.

                


                  Waldrop MA, Gumienny F, Boue D, de Los Reyes E, Shell R, Weiss RB, Flanigan KM. Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. Am J Med Genet A. 2018 May; 176: 1207-1211.

                


                  Waldrop MA, Gumienny F, El Husayni S, Frank DE, Weiss RB, Flanigan KM. Low-level dystrophin expression attenuating the dystrophinopathy phenotype. Neuromuscul Disord. 2018 Feb; 28: 116-121.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group., ACT DMD Study Group.. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 Sep 23; 390: 1489-1498.

                


                  Waldrop MA, Boue DR, Sites E, Flanigan KM, Shell R. Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. Pediatr Neurol. 2017 Sep; 74: 11-14.

                


                  Zygmunt DA, Crowe KE, Flanigan KM, Martin PT. Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy. Hum Gene Ther. 2017 Sep; 28: 737-746.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

                


                  Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišic N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017; 4: 293-306.

                


                  Wein N, Vulin A, Findlay AR, Gumienny F, Huang N, Wilton SD, Flanigan KM. Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach. J Neuromuscul Dis. 2017; 4: 199-207.

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Education

Date of Appointment at Nationwide Children’s Hospital: 01/29/2010

Board Certifications

Neurology Neuromuscular Medicine

Fellowship

University of Utah Medical School

Date Completed: 06/30/1997

Fellowship

Johns Hopkins Hospital

Date Completed: 06/30/1995

Residency

Johns Hopkins Hospital

Date Completed: 06/30/1994

Internship

University of Michigan Health System

Date Completed: 07/30/1991

Medical School

Rush Medical College

Date Completed: 06/09/1990

Professional Experience

2009 - Present Center for Gene Therapy, The Research Institute at Nationwide Children’s Hospital, Principal Investigator2007 - 2009 University of Utah School of Medicine, Department of Pathology, Adjunct Associate Professor2007 - 2009 University of Utah School of Medicine, Department of Pediatrics, Adjunct Associate Professor2005 - 2009 University of Utah, Department of Human Genetics, Adjunct Associate Professor2005 - 2009 University of Utah School of Medicine, Department of Neurology, Associate Professor2006 - 2007 INSERM Unit 582, Institut de Myologie, Hopital Pitie-Salpetriere (Paris, France), Visiting Researcher2000 - 2007 University of Utah School of Medicine, Department of Pediatrics, Adjunct Assistant Professor1998 - 2007 University of Utah School of Medicine, Department of Pathology, Adjunct Assistant Professor2001 - 2005 University of Utah, Department of Human Genetics, Adjunct Assistant Professor1999 - 2004 University of Utah School of Medicine, Department of Neurology, Assistant Professor1997 - 1998 University of Utah School of Medicine, Department of Neurology, Research Assistant Professor1996 - 1998 University of Utah School of Medicine, Department of Pathology, Limited Term Instructor1995 - 1997 University of Utah School of Medicine, Department of Neurology, Limited Term Instructor

Contact Information

Pediatrics

Call us at: (614) 722-4625

Fax us at: (614) 722-4633

                    Neurology700 Children's DrColumbus, OH 43205 (map)

Contact Information

Call us at: (614) 722-4625

Fax us at: (614) 722-4633

PediatricsNeurology700 Children’s DrColumbus, OH 43205 (map)

Learn more about Kevin M. Flanigan

Biography

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Academic and Clinical Areas

Center for Gene Therapy

Director

Neuromuscular Disorders

Director

Kevin Flanigan Lab

Principal Investigator

Neurology

Physician Team

Neurology Residency

Faculty

Primary Department

Pediatrics

Primary Section

Neurology

Awards, Honors & Organizations

Research

Lab(s)

Center for Gene Therapy

Publications

                  Flanigan KM, Vetter TA, Simmons TR, Iammarino M, Frair EC, Rinaldi F, Chicoine LG, Harris J, Cheatham JP, Cheatham SL, Boe B, Waldrop MA, Zygmunt DA, Packer D, Martin PT. A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2. Mol Ther Methods Clin Dev. 2022 Dec 8; 27: 47-60.

                


                  Gushchina LV, Vetter TA, Frair EC, Bradley AJ, Grounds KM, Lay JW, Huang N, Suhaiba A, Schnell FJ, Hanson G, Simmons TR, Wein N, Flanigan KM. Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy. Mol Ther Nucleic Acids. 2022 Dec 13; 30: 479-492.

                


                  Wein N, Vetter TA, Vulin A, Simmons TR, Frair EC, Bradley AJ, Gushchina LV, Almeida CF, Huang N, Lesman D, Rajakumar D, Weiss RB, Flanigan KM. Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse. Mol Ther Methods Clin Dev. 2022 Sep 8; 26: 279-293.

                


                  Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, FOR-DMD Investigators of the Muscle Study Group., Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA. 2022 Apr 19; 327: 1456-1468.

                


                  Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM. Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy. Hum Mutat. 2022 Feb 14;  

                


                  Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, Previtali S, Flanigan KM, Italian DMD Network and the United Dystrophinopathy Project (UDP).. Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications. Neurology. 2021 Dec 22;  

                


                  Vetter TA, Nicolau S, Bradley AJ, Frair EC, Flanigan KM. Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies. Neuropathol Appl Neurobiol. 2021 Nov 30;  

                


                  McDonald CM, Wei LJ, Flanigan KM, Elfring G, Trifillis P, Muntoni F, ACT DMD Clinical Evaluator Training Group., ACT DMD Study Group.. Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment. Muscle Nerve. 2021 Nov; 64: 614-619.

                


                  Wein N, Dunn DM, Waldrop MA, Gushchina LV, Frair EC, Weiss RB, Flanigan KM. Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications. Hum Gene Ther. 2021 Nov; 32: 1346-1359.

                


                  Gushchina LV, Frair EC, Rohan N, Bradley AJ, Simmons TR, Chavan HD, Chou HJ, Eggers M, Waldrop MA, Wein N, Flanigan KM. Lack of Toxicity in Nonhuman Primates Receiving Clinically Relevant Doses of an AAV9.U7snRNA Vector Designed to Induce DMD Exon 2 Skipping. Hum Gene Ther. 2021 Sep; 32: 882-894.

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  Simmons TR, Vetter TA, Huang N, Vulin-Chaffiol A, Wein N, Flanigan KM. Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping. Mol Ther Methods Clin Dev. 2021 Jun 11; 21: 325-340.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Stephenson AA, Flanigan KM. Gene editing and modulation for Duchenne muscular dystrophy. Prog Mol Biol Transl Sci. 2021; 182: 225-255.

                


                  Apkon S, Kinnett K, Cripe L, Duan D, Jackson JL, Kornegay JN, Mah ML, Nelson SF, Rao V, Scavina M, Wong BL, Flanigan KM. Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019. J Neuromuscul Dis. 2020 Dec 22;  

                


                  Miller NF, Alfano LN, Iammarino MA, Connolly AM, Moore-Clingenpeel M, Powers BR, Tsao CY, Waldrop MA, Flanigan KM, Mendell JR, Lowes LP. Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests. Pediatr Neurol. 2020 Dec; 113: 15-20.

                


                  Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F, PTC124-GD-007-DMD Study Group., ACT DMD Study Group., Clinical Evaluator Training Groups.. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020 Oct; 9: 973-984.

                


                  Barthélémy I, Calmels N, Weiss RB, Tiret L, Vulin A, Wein N, Peccate C, Drougard C, Beroud C, Deburgrave N, Thibaud JL, Escriou C, Punzón I, Garcia L, Kaplan JC, Flanigan KM, Leturcq F, Blot S. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation. Skelet Muscle. 2020 Aug 7; 10: 23.

                


                  Koboldt DC, Waldrop MA, Wilson RK, Flanigan KM. The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy. Ann Neurol. 2020 Apr; 87: 487-496.

                


                  Abreu NJ, Koboldt DC, Gastier-Foster JM, Dave-Wala A, Flanigan KM, Waldrop MA. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. Am J Med Genet A. 2020 Mar; 182: 557-560.

                


                  Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 Mar; 41: 632-640.

                


                  Waldrop MA, Yaou RB, Lucas KK, Martin AS, O'Rourke E, FILNEMUS., Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan KM. Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. J Neuromuscul Dis. 2020; 7: 217-229.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Waldrop MA, Flanigan KM. Update in Duchenne and Becker muscular dystrophy. Curr Opin Neurol. 2019 Oct; 32: 722-727.

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Johnston TP, Cripe LH, Mah ML, Moore-Clingenpeel M, Young C, Flanigan KM, Mendell J, Hor KN. Young Becker Muscular Dystrophy Patients Demonstrate Fibrosis Associated With Abnormal Left Ventricular Ejection Fraction on Cardiac Magnetic Resonance Imaging. Circ Cardiovasc Imaging. 2019 Jul; 12: e008919.

                


                  Connolly AM, Zaidman CM, Golumbek PT, Cradock MM, Flanigan KM, Kuntz NL, Finkel RS, McDonald CM, Iannaccone ST, Anand P, Siener CA, Florence JM, Lowes LP, Alfano LN, Johnson LB, Nicorici A, Nelson LL, Mendell JR, MDA DMD Clinical Research Network.. Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy. Muscle Nerve. 2019 Jun; 59: 650-657.

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Xu R, Jia Y, Zygmunt DA, Cramer ML, Crowe KE, Shao G, Maki AE, Guggenheim HN, Hood BC, Griffin DA, Peterson E, Bolon B, Cheatham JP, Cheatham SL, Flanigan KM, Rodino-Klapac LR, Chicoine LG, Martin PT. An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK.GALGT2 to Leg Skeletal Muscles in the Rhesus Macaque. Mol Ther Methods Clin Dev. 2018 Sep 21; 10: 89-104.

                


                  McDonald CM, Wong B, Flanigan KM, Wilson R, de Kimpe S, Lourbakos A, Lin Z, Campion G, DEMAND V study group.. Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy. Ann Clin Transl Neurol. 2018 Aug; 5: 913-926.

                


                  Weiss RB, Vieland VJ, Dunn DM, Kaminoh Y, Flanigan KM, United Dystrophinopathy Project.. Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. Ann Neurol. 2018 Aug; 84: 234-245.

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018 May 10; 19: 291.

                


                  Waldrop MA, Gumienny F, Boue D, de Los Reyes E, Shell R, Weiss RB, Flanigan KM. Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. Am J Med Genet A. 2018 May; 176: 1207-1211.

                


                  Waldrop MA, Gumienny F, El Husayni S, Frank DE, Weiss RB, Flanigan KM. Low-level dystrophin expression attenuating the dystrophinopathy phenotype. Neuromuscul Disord. 2018 Feb; 28: 116-121.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group., ACT DMD Study Group.. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 Sep 23; 390: 1489-1498.

                


                  Waldrop MA, Boue DR, Sites E, Flanigan KM, Shell R. Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. Pediatr Neurol. 2017 Sep; 74: 11-14.

                


                  Zygmunt DA, Crowe KE, Flanigan KM, Martin PT. Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy. Hum Gene Ther. 2017 Sep; 28: 737-746.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

                


                  Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišic N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017; 4: 293-306.

                


                  Wein N, Vulin A, Findlay AR, Gumienny F, Huang N, Wilton SD, Flanigan KM. Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach. J Neuromuscul Dis. 2017; 4: 199-207.

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Education

Date of Appointment at Nationwide Children’s Hospital: 01/29/2010

Board Certifications

Neurology Neuromuscular Medicine

Fellowship

University of Utah Medical School

Date Completed: 06/30/1997

Fellowship

Johns Hopkins Hospital

Date Completed: 06/30/1995

Residency

Johns Hopkins Hospital

Date Completed: 06/30/1994

Internship

University of Michigan Health System

Date Completed: 07/30/1991

Medical School

Rush Medical College

Date Completed: 06/09/1990

Professional Experience

Contact Information

Pediatrics

Call us at: (614) 722-4625

Fax us at: (614) 722-4633

                    Neurology700 Children's DrColumbus, OH 43205 (map)

Contact Information

Call us at: (614) 722-4625

Fax us at: (614) 722-4633

PediatricsNeurology700 Children’s DrColumbus, OH 43205 (map)

Learn more about Kevin M. Flanigan

Contact Information

Call us at:
(614) 722-4625
Fax us at:
(614) 722-4633
PediatricsNeurology700 Children’s DrColumbus, OH 43205 (map)

Learn more about Kevin M. Flanigan

Biography

Dr. Flanigan earned his medical degree from Rush Medical College and completed his internship at the University of Michigan Health System before completing his Neurology residency and fellowship in Neuromuscular Disorders at the Johns Hopkins Hospital, and an additional post-doctoral laboratory fellowship in Human Molecular Biology and Genetics at the University of Utah.

His primary research interest is in the genetic and molecular characterization of inherited neuromuscular diseases, and the development of therapies directed toward these diseases. A major focus of his laboratory concerns genotype/phenotype correlation in the dystrophinopathies, with the intention of increasing our understanding of the pathogenesis in this disease and translating this understanding into improved therapies. An experienced clinical trialist, he has sponsored three investigator-initiated IND applications for first-in-human gene therapies for Duchenne muscular dystrophy and Sanfilippo syndrome. He is a member of the Executive Board of the World Muscle Society, and a past chair of TREAT-NMD, the international neuromuscular disease consortium.

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Patient Care

Locations

Main Campus of Nationwide Children’s Hospital

Locations

Main Campus of Nationwide Children’s Hospital

Locations

Main Campus of Nationwide Children’s Hospital

Locations

Main Campus of Nationwide Children’s Hospital

Main Campus of Nationwide Children’s Hospital

Academic and Clinical Areas

Center for Gene Therapy

Director

Neuromuscular Disorders

Director

Kevin Flanigan Lab

Principal Investigator

Neurology

Physician Team

Neurology Residency

Faculty

Primary Department

Pediatrics

Primary Section

Neurology

Academic and Clinical Areas

Center for Gene Therapy

Director

Neuromuscular Disorders

Director

Kevin Flanigan Lab

Principal Investigator

Neurology

Physician Team

Neurology Residency

Faculty

Primary Department

Pediatrics

Primary Section

Neurology

Academic and Clinical Areas

Center for Gene Therapy

Director

Neuromuscular Disorders

Director

Kevin Flanigan Lab

Principal Investigator

Neurology

Physician Team

Neurology Residency

Faculty

Primary Department

Pediatrics

Primary Section

Neurology

Center for Gene Therapy

Director

Neuromuscular Disorders

Director

Kevin Flanigan Lab

Principal Investigator

Neurology

Physician Team

Neurology Residency

Faculty

Primary Department

Pediatrics

Primary Section

Neurology

Center for Gene Therapy
Director
Neuromuscular Disorders
Director
Kevin Flanigan Lab
Principal Investigator
Neurology
Physician Team
Neurology Residency
Faculty
Primary Department
Pediatrics
Primary Section
Neurology

Awards, Honors & Organizations

Listed, Best Doctors in America
Member, Executive Board of the World Muscle Society, 2001 - Present
Editorial Board Member, Neuromuscular Disorders
Founder, Nationally-Recognized Nationwide Children’s Hospital and The Ohio State University Annual Myology Course
Incoming Chair, TREAT-NMD: an International Network for the Neuromuscular Field
Founding Editor, PLoS Currents Muscular Dystrophy

Research

Lab(s)

Center for Gene Therapy

Publications

                  Flanigan KM, Vetter TA, Simmons TR, Iammarino M, Frair EC, Rinaldi F, Chicoine LG, Harris J, Cheatham JP, Cheatham SL, Boe B, Waldrop MA, Zygmunt DA, Packer D, Martin PT. A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2. Mol Ther Methods Clin Dev. 2022 Dec 8; 27: 47-60.

                


                  Gushchina LV, Vetter TA, Frair EC, Bradley AJ, Grounds KM, Lay JW, Huang N, Suhaiba A, Schnell FJ, Hanson G, Simmons TR, Wein N, Flanigan KM. Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy. Mol Ther Nucleic Acids. 2022 Dec 13; 30: 479-492.

                


                  Wein N, Vetter TA, Vulin A, Simmons TR, Frair EC, Bradley AJ, Gushchina LV, Almeida CF, Huang N, Lesman D, Rajakumar D, Weiss RB, Flanigan KM. Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse. Mol Ther Methods Clin Dev. 2022 Sep 8; 26: 279-293.

                


                  Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, FOR-DMD Investigators of the Muscle Study Group., Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA. 2022 Apr 19; 327: 1456-1468.

                


                  Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM. Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy. Hum Mutat. 2022 Feb 14;  

                


                  Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, Previtali S, Flanigan KM, Italian DMD Network and the United Dystrophinopathy Project (UDP).. Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications. Neurology. 2021 Dec 22;  

                


                  Vetter TA, Nicolau S, Bradley AJ, Frair EC, Flanigan KM. Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies. Neuropathol Appl Neurobiol. 2021 Nov 30;  

                


                  McDonald CM, Wei LJ, Flanigan KM, Elfring G, Trifillis P, Muntoni F, ACT DMD Clinical Evaluator Training Group., ACT DMD Study Group.. Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment. Muscle Nerve. 2021 Nov; 64: 614-619.

                


                  Wein N, Dunn DM, Waldrop MA, Gushchina LV, Frair EC, Weiss RB, Flanigan KM. Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications. Hum Gene Ther. 2021 Nov; 32: 1346-1359.

                


                  Gushchina LV, Frair EC, Rohan N, Bradley AJ, Simmons TR, Chavan HD, Chou HJ, Eggers M, Waldrop MA, Wein N, Flanigan KM. Lack of Toxicity in Nonhuman Primates Receiving Clinically Relevant Doses of an AAV9.U7snRNA Vector Designed to Induce DMD Exon 2 Skipping. Hum Gene Ther. 2021 Sep; 32: 882-894.

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  Simmons TR, Vetter TA, Huang N, Vulin-Chaffiol A, Wein N, Flanigan KM. Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping. Mol Ther Methods Clin Dev. 2021 Jun 11; 21: 325-340.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Stephenson AA, Flanigan KM. Gene editing and modulation for Duchenne muscular dystrophy. Prog Mol Biol Transl Sci. 2021; 182: 225-255.

                


                  Apkon S, Kinnett K, Cripe L, Duan D, Jackson JL, Kornegay JN, Mah ML, Nelson SF, Rao V, Scavina M, Wong BL, Flanigan KM. Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019. J Neuromuscul Dis. 2020 Dec 22;  

                


                  Miller NF, Alfano LN, Iammarino MA, Connolly AM, Moore-Clingenpeel M, Powers BR, Tsao CY, Waldrop MA, Flanigan KM, Mendell JR, Lowes LP. Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests. Pediatr Neurol. 2020 Dec; 113: 15-20.

                


                  Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F, PTC124-GD-007-DMD Study Group., ACT DMD Study Group., Clinical Evaluator Training Groups.. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020 Oct; 9: 973-984.

                


                  Barthélémy I, Calmels N, Weiss RB, Tiret L, Vulin A, Wein N, Peccate C, Drougard C, Beroud C, Deburgrave N, Thibaud JL, Escriou C, Punzón I, Garcia L, Kaplan JC, Flanigan KM, Leturcq F, Blot S. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation. Skelet Muscle. 2020 Aug 7; 10: 23.

                


                  Koboldt DC, Waldrop MA, Wilson RK, Flanigan KM. The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy. Ann Neurol. 2020 Apr; 87: 487-496.

                


                  Abreu NJ, Koboldt DC, Gastier-Foster JM, Dave-Wala A, Flanigan KM, Waldrop MA. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. Am J Med Genet A. 2020 Mar; 182: 557-560.

                


                  Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 Mar; 41: 632-640.

                


                  Waldrop MA, Yaou RB, Lucas KK, Martin AS, O'Rourke E, FILNEMUS., Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan KM. Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. J Neuromuscul Dis. 2020; 7: 217-229.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Waldrop MA, Flanigan KM. Update in Duchenne and Becker muscular dystrophy. Curr Opin Neurol. 2019 Oct; 32: 722-727.

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Johnston TP, Cripe LH, Mah ML, Moore-Clingenpeel M, Young C, Flanigan KM, Mendell J, Hor KN. Young Becker Muscular Dystrophy Patients Demonstrate Fibrosis Associated With Abnormal Left Ventricular Ejection Fraction on Cardiac Magnetic Resonance Imaging. Circ Cardiovasc Imaging. 2019 Jul; 12: e008919.

                


                  Connolly AM, Zaidman CM, Golumbek PT, Cradock MM, Flanigan KM, Kuntz NL, Finkel RS, McDonald CM, Iannaccone ST, Anand P, Siener CA, Florence JM, Lowes LP, Alfano LN, Johnson LB, Nicorici A, Nelson LL, Mendell JR, MDA DMD Clinical Research Network.. Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy. Muscle Nerve. 2019 Jun; 59: 650-657.

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Xu R, Jia Y, Zygmunt DA, Cramer ML, Crowe KE, Shao G, Maki AE, Guggenheim HN, Hood BC, Griffin DA, Peterson E, Bolon B, Cheatham JP, Cheatham SL, Flanigan KM, Rodino-Klapac LR, Chicoine LG, Martin PT. An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK.GALGT2 to Leg Skeletal Muscles in the Rhesus Macaque. Mol Ther Methods Clin Dev. 2018 Sep 21; 10: 89-104.

                


                  McDonald CM, Wong B, Flanigan KM, Wilson R, de Kimpe S, Lourbakos A, Lin Z, Campion G, DEMAND V study group.. Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy. Ann Clin Transl Neurol. 2018 Aug; 5: 913-926.

                


                  Weiss RB, Vieland VJ, Dunn DM, Kaminoh Y, Flanigan KM, United Dystrophinopathy Project.. Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. Ann Neurol. 2018 Aug; 84: 234-245.

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018 May 10; 19: 291.

                


                  Waldrop MA, Gumienny F, Boue D, de Los Reyes E, Shell R, Weiss RB, Flanigan KM. Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. Am J Med Genet A. 2018 May; 176: 1207-1211.

                


                  Waldrop MA, Gumienny F, El Husayni S, Frank DE, Weiss RB, Flanigan KM. Low-level dystrophin expression attenuating the dystrophinopathy phenotype. Neuromuscul Disord. 2018 Feb; 28: 116-121.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group., ACT DMD Study Group.. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 Sep 23; 390: 1489-1498.

                


                  Waldrop MA, Boue DR, Sites E, Flanigan KM, Shell R. Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. Pediatr Neurol. 2017 Sep; 74: 11-14.

                


                  Zygmunt DA, Crowe KE, Flanigan KM, Martin PT. Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy. Hum Gene Ther. 2017 Sep; 28: 737-746.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

                


                  Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišic N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017; 4: 293-306.

                


                  Wein N, Vulin A, Findlay AR, Gumienny F, Huang N, Wilton SD, Flanigan KM. Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach. J Neuromuscul Dis. 2017; 4: 199-207.

View More Publications

Research

Lab(s)

Center for Gene Therapy

Publications

                  Flanigan KM, Vetter TA, Simmons TR, Iammarino M, Frair EC, Rinaldi F, Chicoine LG, Harris J, Cheatham JP, Cheatham SL, Boe B, Waldrop MA, Zygmunt DA, Packer D, Martin PT. A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2. Mol Ther Methods Clin Dev. 2022 Dec 8; 27: 47-60.

                


                  Gushchina LV, Vetter TA, Frair EC, Bradley AJ, Grounds KM, Lay JW, Huang N, Suhaiba A, Schnell FJ, Hanson G, Simmons TR, Wein N, Flanigan KM. Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy. Mol Ther Nucleic Acids. 2022 Dec 13; 30: 479-492.

                


                  Wein N, Vetter TA, Vulin A, Simmons TR, Frair EC, Bradley AJ, Gushchina LV, Almeida CF, Huang N, Lesman D, Rajakumar D, Weiss RB, Flanigan KM. Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse. Mol Ther Methods Clin Dev. 2022 Sep 8; 26: 279-293.

                


                  Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, FOR-DMD Investigators of the Muscle Study Group., Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA. 2022 Apr 19; 327: 1456-1468.

                


                  Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM. Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy. Hum Mutat. 2022 Feb 14;  

                


                  Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, Previtali S, Flanigan KM, Italian DMD Network and the United Dystrophinopathy Project (UDP).. Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications. Neurology. 2021 Dec 22;  

                


                  Vetter TA, Nicolau S, Bradley AJ, Frair EC, Flanigan KM. Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies. Neuropathol Appl Neurobiol. 2021 Nov 30;  

                


                  McDonald CM, Wei LJ, Flanigan KM, Elfring G, Trifillis P, Muntoni F, ACT DMD Clinical Evaluator Training Group., ACT DMD Study Group.. Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment. Muscle Nerve. 2021 Nov; 64: 614-619.

                


                  Wein N, Dunn DM, Waldrop MA, Gushchina LV, Frair EC, Weiss RB, Flanigan KM. Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications. Hum Gene Ther. 2021 Nov; 32: 1346-1359.

                


                  Gushchina LV, Frair EC, Rohan N, Bradley AJ, Simmons TR, Chavan HD, Chou HJ, Eggers M, Waldrop MA, Wein N, Flanigan KM. Lack of Toxicity in Nonhuman Primates Receiving Clinically Relevant Doses of an AAV9.U7snRNA Vector Designed to Induce DMD Exon 2 Skipping. Hum Gene Ther. 2021 Sep; 32: 882-894.

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  Simmons TR, Vetter TA, Huang N, Vulin-Chaffiol A, Wein N, Flanigan KM. Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping. Mol Ther Methods Clin Dev. 2021 Jun 11; 21: 325-340.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Stephenson AA, Flanigan KM. Gene editing and modulation for Duchenne muscular dystrophy. Prog Mol Biol Transl Sci. 2021; 182: 225-255.

                


                  Apkon S, Kinnett K, Cripe L, Duan D, Jackson JL, Kornegay JN, Mah ML, Nelson SF, Rao V, Scavina M, Wong BL, Flanigan KM. Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019. J Neuromuscul Dis. 2020 Dec 22;  

                


                  Miller NF, Alfano LN, Iammarino MA, Connolly AM, Moore-Clingenpeel M, Powers BR, Tsao CY, Waldrop MA, Flanigan KM, Mendell JR, Lowes LP. Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests. Pediatr Neurol. 2020 Dec; 113: 15-20.

                


                  Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F, PTC124-GD-007-DMD Study Group., ACT DMD Study Group., Clinical Evaluator Training Groups.. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020 Oct; 9: 973-984.

                


                  Barthélémy I, Calmels N, Weiss RB, Tiret L, Vulin A, Wein N, Peccate C, Drougard C, Beroud C, Deburgrave N, Thibaud JL, Escriou C, Punzón I, Garcia L, Kaplan JC, Flanigan KM, Leturcq F, Blot S. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation. Skelet Muscle. 2020 Aug 7; 10: 23.

                


                  Koboldt DC, Waldrop MA, Wilson RK, Flanigan KM. The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy. Ann Neurol. 2020 Apr; 87: 487-496.

                


                  Abreu NJ, Koboldt DC, Gastier-Foster JM, Dave-Wala A, Flanigan KM, Waldrop MA. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. Am J Med Genet A. 2020 Mar; 182: 557-560.

                


                  Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 Mar; 41: 632-640.

                


                  Waldrop MA, Yaou RB, Lucas KK, Martin AS, O'Rourke E, FILNEMUS., Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan KM. Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. J Neuromuscul Dis. 2020; 7: 217-229.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Waldrop MA, Flanigan KM. Update in Duchenne and Becker muscular dystrophy. Curr Opin Neurol. 2019 Oct; 32: 722-727.

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Johnston TP, Cripe LH, Mah ML, Moore-Clingenpeel M, Young C, Flanigan KM, Mendell J, Hor KN. Young Becker Muscular Dystrophy Patients Demonstrate Fibrosis Associated With Abnormal Left Ventricular Ejection Fraction on Cardiac Magnetic Resonance Imaging. Circ Cardiovasc Imaging. 2019 Jul; 12: e008919.

                


                  Connolly AM, Zaidman CM, Golumbek PT, Cradock MM, Flanigan KM, Kuntz NL, Finkel RS, McDonald CM, Iannaccone ST, Anand P, Siener CA, Florence JM, Lowes LP, Alfano LN, Johnson LB, Nicorici A, Nelson LL, Mendell JR, MDA DMD Clinical Research Network.. Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy. Muscle Nerve. 2019 Jun; 59: 650-657.

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Xu R, Jia Y, Zygmunt DA, Cramer ML, Crowe KE, Shao G, Maki AE, Guggenheim HN, Hood BC, Griffin DA, Peterson E, Bolon B, Cheatham JP, Cheatham SL, Flanigan KM, Rodino-Klapac LR, Chicoine LG, Martin PT. An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK.GALGT2 to Leg Skeletal Muscles in the Rhesus Macaque. Mol Ther Methods Clin Dev. 2018 Sep 21; 10: 89-104.

                


                  McDonald CM, Wong B, Flanigan KM, Wilson R, de Kimpe S, Lourbakos A, Lin Z, Campion G, DEMAND V study group.. Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy. Ann Clin Transl Neurol. 2018 Aug; 5: 913-926.

                


                  Weiss RB, Vieland VJ, Dunn DM, Kaminoh Y, Flanigan KM, United Dystrophinopathy Project.. Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. Ann Neurol. 2018 Aug; 84: 234-245.

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018 May 10; 19: 291.

                


                  Waldrop MA, Gumienny F, Boue D, de Los Reyes E, Shell R, Weiss RB, Flanigan KM. Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. Am J Med Genet A. 2018 May; 176: 1207-1211.

                


                  Waldrop MA, Gumienny F, El Husayni S, Frank DE, Weiss RB, Flanigan KM. Low-level dystrophin expression attenuating the dystrophinopathy phenotype. Neuromuscul Disord. 2018 Feb; 28: 116-121.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group., ACT DMD Study Group.. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 Sep 23; 390: 1489-1498.

                


                  Waldrop MA, Boue DR, Sites E, Flanigan KM, Shell R. Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. Pediatr Neurol. 2017 Sep; 74: 11-14.

                


                  Zygmunt DA, Crowe KE, Flanigan KM, Martin PT. Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy. Hum Gene Ther. 2017 Sep; 28: 737-746.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

                


                  Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišic N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017; 4: 293-306.

                


                  Wein N, Vulin A, Findlay AR, Gumienny F, Huang N, Wilton SD, Flanigan KM. Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach. J Neuromuscul Dis. 2017; 4: 199-207.

View More Publications

Research

Lab(s)

Center for Gene Therapy

Publications

                  Flanigan KM, Vetter TA, Simmons TR, Iammarino M, Frair EC, Rinaldi F, Chicoine LG, Harris J, Cheatham JP, Cheatham SL, Boe B, Waldrop MA, Zygmunt DA, Packer D, Martin PT. A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2. Mol Ther Methods Clin Dev. 2022 Dec 8; 27: 47-60.

                


                  Gushchina LV, Vetter TA, Frair EC, Bradley AJ, Grounds KM, Lay JW, Huang N, Suhaiba A, Schnell FJ, Hanson G, Simmons TR, Wein N, Flanigan KM. Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy. Mol Ther Nucleic Acids. 2022 Dec 13; 30: 479-492.

                


                  Wein N, Vetter TA, Vulin A, Simmons TR, Frair EC, Bradley AJ, Gushchina LV, Almeida CF, Huang N, Lesman D, Rajakumar D, Weiss RB, Flanigan KM. Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse. Mol Ther Methods Clin Dev. 2022 Sep 8; 26: 279-293.

                


                  Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, FOR-DMD Investigators of the Muscle Study Group., Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA. 2022 Apr 19; 327: 1456-1468.

                


                  Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM. Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy. Hum Mutat. 2022 Feb 14;  

                


                  Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, Previtali S, Flanigan KM, Italian DMD Network and the United Dystrophinopathy Project (UDP).. Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications. Neurology. 2021 Dec 22;  

                


                  Vetter TA, Nicolau S, Bradley AJ, Frair EC, Flanigan KM. Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies. Neuropathol Appl Neurobiol. 2021 Nov 30;  

                


                  McDonald CM, Wei LJ, Flanigan KM, Elfring G, Trifillis P, Muntoni F, ACT DMD Clinical Evaluator Training Group., ACT DMD Study Group.. Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment. Muscle Nerve. 2021 Nov; 64: 614-619.

                


                  Wein N, Dunn DM, Waldrop MA, Gushchina LV, Frair EC, Weiss RB, Flanigan KM. Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications. Hum Gene Ther. 2021 Nov; 32: 1346-1359.

                


                  Gushchina LV, Frair EC, Rohan N, Bradley AJ, Simmons TR, Chavan HD, Chou HJ, Eggers M, Waldrop MA, Wein N, Flanigan KM. Lack of Toxicity in Nonhuman Primates Receiving Clinically Relevant Doses of an AAV9.U7snRNA Vector Designed to Induce DMD Exon 2 Skipping. Hum Gene Ther. 2021 Sep; 32: 882-894.

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  Simmons TR, Vetter TA, Huang N, Vulin-Chaffiol A, Wein N, Flanigan KM. Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping. Mol Ther Methods Clin Dev. 2021 Jun 11; 21: 325-340.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Stephenson AA, Flanigan KM. Gene editing and modulation for Duchenne muscular dystrophy. Prog Mol Biol Transl Sci. 2021; 182: 225-255.

                


                  Apkon S, Kinnett K, Cripe L, Duan D, Jackson JL, Kornegay JN, Mah ML, Nelson SF, Rao V, Scavina M, Wong BL, Flanigan KM. Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019. J Neuromuscul Dis. 2020 Dec 22;  

                


                  Miller NF, Alfano LN, Iammarino MA, Connolly AM, Moore-Clingenpeel M, Powers BR, Tsao CY, Waldrop MA, Flanigan KM, Mendell JR, Lowes LP. Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests. Pediatr Neurol. 2020 Dec; 113: 15-20.

                


                  Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F, PTC124-GD-007-DMD Study Group., ACT DMD Study Group., Clinical Evaluator Training Groups.. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020 Oct; 9: 973-984.

                


                  Barthélémy I, Calmels N, Weiss RB, Tiret L, Vulin A, Wein N, Peccate C, Drougard C, Beroud C, Deburgrave N, Thibaud JL, Escriou C, Punzón I, Garcia L, Kaplan JC, Flanigan KM, Leturcq F, Blot S. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation. Skelet Muscle. 2020 Aug 7; 10: 23.

                


                  Koboldt DC, Waldrop MA, Wilson RK, Flanigan KM. The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy. Ann Neurol. 2020 Apr; 87: 487-496.

                


                  Abreu NJ, Koboldt DC, Gastier-Foster JM, Dave-Wala A, Flanigan KM, Waldrop MA. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. Am J Med Genet A. 2020 Mar; 182: 557-560.

                


                  Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 Mar; 41: 632-640.

                


                  Waldrop MA, Yaou RB, Lucas KK, Martin AS, O'Rourke E, FILNEMUS., Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan KM. Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. J Neuromuscul Dis. 2020; 7: 217-229.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Waldrop MA, Flanigan KM. Update in Duchenne and Becker muscular dystrophy. Curr Opin Neurol. 2019 Oct; 32: 722-727.

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Johnston TP, Cripe LH, Mah ML, Moore-Clingenpeel M, Young C, Flanigan KM, Mendell J, Hor KN. Young Becker Muscular Dystrophy Patients Demonstrate Fibrosis Associated With Abnormal Left Ventricular Ejection Fraction on Cardiac Magnetic Resonance Imaging. Circ Cardiovasc Imaging. 2019 Jul; 12: e008919.

                


                  Connolly AM, Zaidman CM, Golumbek PT, Cradock MM, Flanigan KM, Kuntz NL, Finkel RS, McDonald CM, Iannaccone ST, Anand P, Siener CA, Florence JM, Lowes LP, Alfano LN, Johnson LB, Nicorici A, Nelson LL, Mendell JR, MDA DMD Clinical Research Network.. Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy. Muscle Nerve. 2019 Jun; 59: 650-657.

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Xu R, Jia Y, Zygmunt DA, Cramer ML, Crowe KE, Shao G, Maki AE, Guggenheim HN, Hood BC, Griffin DA, Peterson E, Bolon B, Cheatham JP, Cheatham SL, Flanigan KM, Rodino-Klapac LR, Chicoine LG, Martin PT. An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK.GALGT2 to Leg Skeletal Muscles in the Rhesus Macaque. Mol Ther Methods Clin Dev. 2018 Sep 21; 10: 89-104.

                


                  McDonald CM, Wong B, Flanigan KM, Wilson R, de Kimpe S, Lourbakos A, Lin Z, Campion G, DEMAND V study group.. Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy. Ann Clin Transl Neurol. 2018 Aug; 5: 913-926.

                


                  Weiss RB, Vieland VJ, Dunn DM, Kaminoh Y, Flanigan KM, United Dystrophinopathy Project.. Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. Ann Neurol. 2018 Aug; 84: 234-245.

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018 May 10; 19: 291.

                


                  Waldrop MA, Gumienny F, Boue D, de Los Reyes E, Shell R, Weiss RB, Flanigan KM. Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. Am J Med Genet A. 2018 May; 176: 1207-1211.

                


                  Waldrop MA, Gumienny F, El Husayni S, Frank DE, Weiss RB, Flanigan KM. Low-level dystrophin expression attenuating the dystrophinopathy phenotype. Neuromuscul Disord. 2018 Feb; 28: 116-121.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group., ACT DMD Study Group.. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 Sep 23; 390: 1489-1498.

                


                  Waldrop MA, Boue DR, Sites E, Flanigan KM, Shell R. Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. Pediatr Neurol. 2017 Sep; 74: 11-14.

                


                  Zygmunt DA, Crowe KE, Flanigan KM, Martin PT. Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy. Hum Gene Ther. 2017 Sep; 28: 737-746.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

                


                  Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišic N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017; 4: 293-306.

                


                  Wein N, Vulin A, Findlay AR, Gumienny F, Huang N, Wilton SD, Flanigan KM. Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach. J Neuromuscul Dis. 2017; 4: 199-207.

View More Publications

Lab(s)

Center for Gene Therapy

Publications

                  Flanigan KM, Vetter TA, Simmons TR, Iammarino M, Frair EC, Rinaldi F, Chicoine LG, Harris J, Cheatham JP, Cheatham SL, Boe B, Waldrop MA, Zygmunt DA, Packer D, Martin PT. A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2. Mol Ther Methods Clin Dev. 2022 Dec 8; 27: 47-60.

                


                  Gushchina LV, Vetter TA, Frair EC, Bradley AJ, Grounds KM, Lay JW, Huang N, Suhaiba A, Schnell FJ, Hanson G, Simmons TR, Wein N, Flanigan KM. Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy. Mol Ther Nucleic Acids. 2022 Dec 13; 30: 479-492.

                


                  Wein N, Vetter TA, Vulin A, Simmons TR, Frair EC, Bradley AJ, Gushchina LV, Almeida CF, Huang N, Lesman D, Rajakumar D, Weiss RB, Flanigan KM. Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse. Mol Ther Methods Clin Dev. 2022 Sep 8; 26: 279-293.

                


                  Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, FOR-DMD Investigators of the Muscle Study Group., Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA. 2022 Apr 19; 327: 1456-1468.

                


                  Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM. Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy. Hum Mutat. 2022 Feb 14;  

                


                  Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, Previtali S, Flanigan KM, Italian DMD Network and the United Dystrophinopathy Project (UDP).. Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications. Neurology. 2021 Dec 22;  

                


                  Vetter TA, Nicolau S, Bradley AJ, Frair EC, Flanigan KM. Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies. Neuropathol Appl Neurobiol. 2021 Nov 30;  

                


                  McDonald CM, Wei LJ, Flanigan KM, Elfring G, Trifillis P, Muntoni F, ACT DMD Clinical Evaluator Training Group., ACT DMD Study Group.. Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment. Muscle Nerve. 2021 Nov; 64: 614-619.

                


                  Wein N, Dunn DM, Waldrop MA, Gushchina LV, Frair EC, Weiss RB, Flanigan KM. Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications. Hum Gene Ther. 2021 Nov; 32: 1346-1359.

                


                  Gushchina LV, Frair EC, Rohan N, Bradley AJ, Simmons TR, Chavan HD, Chou HJ, Eggers M, Waldrop MA, Wein N, Flanigan KM. Lack of Toxicity in Nonhuman Primates Receiving Clinically Relevant Doses of an AAV9.U7snRNA Vector Designed to Induce DMD Exon 2 Skipping. Hum Gene Ther. 2021 Sep; 32: 882-894.

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  Simmons TR, Vetter TA, Huang N, Vulin-Chaffiol A, Wein N, Flanigan KM. Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping. Mol Ther Methods Clin Dev. 2021 Jun 11; 21: 325-340.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Stephenson AA, Flanigan KM. Gene editing and modulation for Duchenne muscular dystrophy. Prog Mol Biol Transl Sci. 2021; 182: 225-255.

                


                  Apkon S, Kinnett K, Cripe L, Duan D, Jackson JL, Kornegay JN, Mah ML, Nelson SF, Rao V, Scavina M, Wong BL, Flanigan KM. Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019. J Neuromuscul Dis. 2020 Dec 22;  

                


                  Miller NF, Alfano LN, Iammarino MA, Connolly AM, Moore-Clingenpeel M, Powers BR, Tsao CY, Waldrop MA, Flanigan KM, Mendell JR, Lowes LP. Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests. Pediatr Neurol. 2020 Dec; 113: 15-20.

                


                  Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F, PTC124-GD-007-DMD Study Group., ACT DMD Study Group., Clinical Evaluator Training Groups.. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020 Oct; 9: 973-984.

                


                  Barthélémy I, Calmels N, Weiss RB, Tiret L, Vulin A, Wein N, Peccate C, Drougard C, Beroud C, Deburgrave N, Thibaud JL, Escriou C, Punzón I, Garcia L, Kaplan JC, Flanigan KM, Leturcq F, Blot S. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation. Skelet Muscle. 2020 Aug 7; 10: 23.

                


                  Koboldt DC, Waldrop MA, Wilson RK, Flanigan KM. The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy. Ann Neurol. 2020 Apr; 87: 487-496.

                


                  Abreu NJ, Koboldt DC, Gastier-Foster JM, Dave-Wala A, Flanigan KM, Waldrop MA. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. Am J Med Genet A. 2020 Mar; 182: 557-560.

                


                  Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 Mar; 41: 632-640.

                


                  Waldrop MA, Yaou RB, Lucas KK, Martin AS, O'Rourke E, FILNEMUS., Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan KM. Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. J Neuromuscul Dis. 2020; 7: 217-229.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Waldrop MA, Flanigan KM. Update in Duchenne and Becker muscular dystrophy. Curr Opin Neurol. 2019 Oct; 32: 722-727.

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Johnston TP, Cripe LH, Mah ML, Moore-Clingenpeel M, Young C, Flanigan KM, Mendell J, Hor KN. Young Becker Muscular Dystrophy Patients Demonstrate Fibrosis Associated With Abnormal Left Ventricular Ejection Fraction on Cardiac Magnetic Resonance Imaging. Circ Cardiovasc Imaging. 2019 Jul; 12: e008919.

                


                  Connolly AM, Zaidman CM, Golumbek PT, Cradock MM, Flanigan KM, Kuntz NL, Finkel RS, McDonald CM, Iannaccone ST, Anand P, Siener CA, Florence JM, Lowes LP, Alfano LN, Johnson LB, Nicorici A, Nelson LL, Mendell JR, MDA DMD Clinical Research Network.. Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy. Muscle Nerve. 2019 Jun; 59: 650-657.

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Xu R, Jia Y, Zygmunt DA, Cramer ML, Crowe KE, Shao G, Maki AE, Guggenheim HN, Hood BC, Griffin DA, Peterson E, Bolon B, Cheatham JP, Cheatham SL, Flanigan KM, Rodino-Klapac LR, Chicoine LG, Martin PT. An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK.GALGT2 to Leg Skeletal Muscles in the Rhesus Macaque. Mol Ther Methods Clin Dev. 2018 Sep 21; 10: 89-104.

                


                  McDonald CM, Wong B, Flanigan KM, Wilson R, de Kimpe S, Lourbakos A, Lin Z, Campion G, DEMAND V study group.. Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy. Ann Clin Transl Neurol. 2018 Aug; 5: 913-926.

                


                  Weiss RB, Vieland VJ, Dunn DM, Kaminoh Y, Flanigan KM, United Dystrophinopathy Project.. Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. Ann Neurol. 2018 Aug; 84: 234-245.

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018 May 10; 19: 291.

                


                  Waldrop MA, Gumienny F, Boue D, de Los Reyes E, Shell R, Weiss RB, Flanigan KM. Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. Am J Med Genet A. 2018 May; 176: 1207-1211.

                


                  Waldrop MA, Gumienny F, El Husayni S, Frank DE, Weiss RB, Flanigan KM. Low-level dystrophin expression attenuating the dystrophinopathy phenotype. Neuromuscul Disord. 2018 Feb; 28: 116-121.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group., ACT DMD Study Group.. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 Sep 23; 390: 1489-1498.

                


                  Waldrop MA, Boue DR, Sites E, Flanigan KM, Shell R. Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. Pediatr Neurol. 2017 Sep; 74: 11-14.

                


                  Zygmunt DA, Crowe KE, Flanigan KM, Martin PT. Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy. Hum Gene Ther. 2017 Sep; 28: 737-746.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

                


                  Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišic N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017; 4: 293-306.

                


                  Wein N, Vulin A, Findlay AR, Gumienny F, Huang N, Wilton SD, Flanigan KM. Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach. J Neuromuscul Dis. 2017; 4: 199-207.

View More Publications

Lab(s)

Center for Gene Therapy

                  Flanigan KM, Vetter TA, Simmons TR, Iammarino M, Frair EC, Rinaldi F, Chicoine LG, Harris J, Cheatham JP, Cheatham SL, Boe B, Waldrop MA, Zygmunt DA, Packer D, Martin PT. A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2. Mol Ther Methods Clin Dev. 2022 Dec 8; 27: 47-60.

                


                  Gushchina LV, Vetter TA, Frair EC, Bradley AJ, Grounds KM, Lay JW, Huang N, Suhaiba A, Schnell FJ, Hanson G, Simmons TR, Wein N, Flanigan KM. Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy. Mol Ther Nucleic Acids. 2022 Dec 13; 30: 479-492.

                


                  Wein N, Vetter TA, Vulin A, Simmons TR, Frair EC, Bradley AJ, Gushchina LV, Almeida CF, Huang N, Lesman D, Rajakumar D, Weiss RB, Flanigan KM. Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse. Mol Ther Methods Clin Dev. 2022 Sep 8; 26: 279-293.

                


                  Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, FOR-DMD Investigators of the Muscle Study Group., Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA. 2022 Apr 19; 327: 1456-1468.

                


                  Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM. Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy. Hum Mutat. 2022 Feb 14;  

                


                  Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, Previtali S, Flanigan KM, Italian DMD Network and the United Dystrophinopathy Project (UDP).. Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications. Neurology. 2021 Dec 22;  

                


                  Vetter TA, Nicolau S, Bradley AJ, Frair EC, Flanigan KM. Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies. Neuropathol Appl Neurobiol. 2021 Nov 30;  

                


                  McDonald CM, Wei LJ, Flanigan KM, Elfring G, Trifillis P, Muntoni F, ACT DMD Clinical Evaluator Training Group., ACT DMD Study Group.. Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment. Muscle Nerve. 2021 Nov; 64: 614-619.

                


                  Wein N, Dunn DM, Waldrop MA, Gushchina LV, Frair EC, Weiss RB, Flanigan KM. Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications. Hum Gene Ther. 2021 Nov; 32: 1346-1359.

                


                  Gushchina LV, Frair EC, Rohan N, Bradley AJ, Simmons TR, Chavan HD, Chou HJ, Eggers M, Waldrop MA, Wein N, Flanigan KM. Lack of Toxicity in Nonhuman Primates Receiving Clinically Relevant Doses of an AAV9.U7snRNA Vector Designed to Induce DMD Exon 2 Skipping. Hum Gene Ther. 2021 Sep; 32: 882-894.

                


                  Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.

                


                  Simmons TR, Vetter TA, Huang N, Vulin-Chaffiol A, Wein N, Flanigan KM. Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping. Mol Ther Methods Clin Dev. 2021 Jun 11; 21: 325-340.

                


                  McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.

                


                  Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;  

                


                  Stephenson AA, Flanigan KM. Gene editing and modulation for Duchenne muscular dystrophy. Prog Mol Biol Transl Sci. 2021; 182: 225-255.

                


                  Apkon S, Kinnett K, Cripe L, Duan D, Jackson JL, Kornegay JN, Mah ML, Nelson SF, Rao V, Scavina M, Wong BL, Flanigan KM. Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019. J Neuromuscul Dis. 2020 Dec 22;  

                


                  Miller NF, Alfano LN, Iammarino MA, Connolly AM, Moore-Clingenpeel M, Powers BR, Tsao CY, Waldrop MA, Flanigan KM, Mendell JR, Lowes LP. Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests. Pediatr Neurol. 2020 Dec; 113: 15-20.

                


                  Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F, PTC124-GD-007-DMD Study Group., ACT DMD Study Group., Clinical Evaluator Training Groups.. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020 Oct; 9: 973-984.

                


                  Barthélémy I, Calmels N, Weiss RB, Tiret L, Vulin A, Wein N, Peccate C, Drougard C, Beroud C, Deburgrave N, Thibaud JL, Escriou C, Punzón I, Garcia L, Kaplan JC, Flanigan KM, Leturcq F, Blot S. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation. Skelet Muscle. 2020 Aug 7; 10: 23.

                


                  Koboldt DC, Waldrop MA, Wilson RK, Flanigan KM. The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy. Ann Neurol. 2020 Apr; 87: 487-496.

                


                  Abreu NJ, Koboldt DC, Gastier-Foster JM, Dave-Wala A, Flanigan KM, Waldrop MA. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. Am J Med Genet A. 2020 Mar; 182: 557-560.

                


                  Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 Mar; 41: 632-640.

                


                  Waldrop MA, Yaou RB, Lucas KK, Martin AS, O'Rourke E, FILNEMUS., Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan KM. Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. J Neuromuscul Dis. 2020; 7: 217-229.

                


                  Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.

                


                  Waldrop MA, Flanigan KM. Update in Duchenne and Becker muscular dystrophy. Curr Opin Neurol. 2019 Oct; 32: 722-727.

                


                  Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.

                


                  Johnston TP, Cripe LH, Mah ML, Moore-Clingenpeel M, Young C, Flanigan KM, Mendell J, Hor KN. Young Becker Muscular Dystrophy Patients Demonstrate Fibrosis Associated With Abnormal Left Ventricular Ejection Fraction on Cardiac Magnetic Resonance Imaging. Circ Cardiovasc Imaging. 2019 Jul; 12: e008919.

                


                  Connolly AM, Zaidman CM, Golumbek PT, Cradock MM, Flanigan KM, Kuntz NL, Finkel RS, McDonald CM, Iannaccone ST, Anand P, Siener CA, Florence JM, Lowes LP, Alfano LN, Johnson LB, Nicorici A, Nelson LL, Mendell JR, MDA DMD Clinical Research Network.. Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy. Muscle Nerve. 2019 Jun; 59: 650-657.

                


                  Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.

                


                  Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4: 

                


                  Xu R, Jia Y, Zygmunt DA, Cramer ML, Crowe KE, Shao G, Maki AE, Guggenheim HN, Hood BC, Griffin DA, Peterson E, Bolon B, Cheatham JP, Cheatham SL, Flanigan KM, Rodino-Klapac LR, Chicoine LG, Martin PT. An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK.GALGT2 to Leg Skeletal Muscles in the Rhesus Macaque. Mol Ther Methods Clin Dev. 2018 Sep 21; 10: 89-104.

                


                  McDonald CM, Wong B, Flanigan KM, Wilson R, de Kimpe S, Lourbakos A, Lin Z, Campion G, DEMAND V study group.. Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy. Ann Clin Transl Neurol. 2018 Aug; 5: 913-926.

                


                  Weiss RB, Vieland VJ, Dunn DM, Kaminoh Y, Flanigan KM, United Dystrophinopathy Project.. Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. Ann Neurol. 2018 Aug; 84: 234-245.

                


                  Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.

                


                  Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018 May 10; 19: 291.

                


                  Waldrop MA, Gumienny F, Boue D, de Los Reyes E, Shell R, Weiss RB, Flanigan KM. Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. Am J Med Genet A. 2018 May; 176: 1207-1211.

                


                  Waldrop MA, Gumienny F, El Husayni S, Frank DE, Weiss RB, Flanigan KM. Low-level dystrophin expression attenuating the dystrophinopathy phenotype. Neuromuscul Disord. 2018 Feb; 28: 116-121.

                


                  Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.

                


                  McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group., ACT DMD Study Group.. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 Sep 23; 390: 1489-1498.

                


                  Waldrop MA, Boue DR, Sites E, Flanigan KM, Shell R. Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. Pediatr Neurol. 2017 Sep; 74: 11-14.

                


                  Zygmunt DA, Crowe KE, Flanigan KM, Martin PT. Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy. Hum Gene Ther. 2017 Sep; 28: 737-746.

                


                  Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.

                


                  Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišic N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017; 4: 293-306.

                


                  Wein N, Vulin A, Findlay AR, Gumienny F, Huang N, Wilton SD, Flanigan KM. Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach. J Neuromuscul Dis. 2017; 4: 199-207.

View More Publications

Lab(s)

Center for Gene Therapy

Center for Gene Therapy
Flanigan KM, Vetter TA, Simmons TR, Iammarino M, Frair EC, Rinaldi F, Chicoine LG, Harris J, Cheatham JP, Cheatham SL, Boe B, Waldrop MA, Zygmunt DA, Packer D, Martin PT. A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2. Mol Ther Methods Clin Dev. 2022 Dec 8; 27: 47-60.
Gushchina LV, Vetter TA, Frair EC, Bradley AJ, Grounds KM, Lay JW, Huang N, Suhaiba A, Schnell FJ, Hanson G, Simmons TR, Wein N, Flanigan KM. Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy. Mol Ther Nucleic Acids. 2022 Dec 13; 30: 479-492.
Wein N, Vetter TA, Vulin A, Simmons TR, Frair EC, Bradley AJ, Gushchina LV, Almeida CF, Huang N, Lesman D, Rajakumar D, Weiss RB, Flanigan KM. Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse. Mol Ther Methods Clin Dev. 2022 Sep 8; 26: 279-293.
Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, FOR-DMD Investigators of the Muscle Study Group., Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O’Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA. 2022 Apr 19; 327: 1456-1468.
Waldrop MA, Moore SA, Mathews KD, Darbro BW, Medne L, Finkel R, Connolly AM, Crawford TO, Drachman D, Wein N, Habib AA, Krzesniak-Swinarska MA, Zaidman CM, Collins JJ, Jokela M, Udd B, Day JW, Ortiz-Guerrero G, Statland J, Butterfield RJ, Dunn DM, Weiss RB, Flanigan KM. Intron Mutations and Early Transcription Termination in Duchenne and Becker muscular dystrophy. Hum Mutat. 2022 Feb 14;
Zambon AA, Waldrop MA, Alles R, Weiss RB, Conroy S, Moore-Clingenpeel M, Previtali S, Flanigan KM, Italian DMD Network and the United Dystrophinopathy Project (UDP).. Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications. Neurology. 2021 Dec 22;
Vetter TA, Nicolau S, Bradley AJ, Frair EC, Flanigan KM. Automated immunofluorescence analysis for sensitive and precise dystrophin quantification in muscle biopsies. Neuropathol Appl Neurobiol. 2021 Nov 30;
McDonald CM, Wei LJ, Flanigan KM, Elfring G, Trifillis P, Muntoni F, ACT DMD Clinical Evaluator Training Group., ACT DMD Study Group.. Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment. Muscle Nerve. 2021 Nov; 64: 614-619.
Wein N, Dunn DM, Waldrop MA, Gushchina LV, Frair EC, Weiss RB, Flanigan KM. Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications. Hum Gene Ther. 2021 Nov; 32: 1346-1359.
Gushchina LV, Frair EC, Rohan N, Bradley AJ, Simmons TR, Chavan HD, Chou HJ, Eggers M, Waldrop MA, Wein N, Flanigan KM. Lack of Toxicity in Nonhuman Primates Receiving Clinically Relevant Doses of an AAV9.U7snRNA Vector Designed to Induce DMD Exon 2 Skipping. Hum Gene Ther. 2021 Sep; 32: 882-894.
Abreu NJ, Selvaraj B, Truxal KV, Moore-Clingenpeel M, Zumberge NA, McNally KA, McBride KL, Ho ML, Flanigan KM. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB. Mol Genet Metab. 2021 Jun; 133: 193-200.
Simmons TR, Vetter TA, Huang N, Vulin-Chaffiol A, Wein N, Flanigan KM. Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping. Mol Ther Methods Clin Dev. 2021 Jun 11; 21: 325-340.
McBride KL, Flanigan KM. Update in the Mucopolysaccharidoses. Semin Pediatr Neurol. 2021 Apr; 37: 100874.
Almeida CF, Frair EC, Huang N, Neinast R, McBride KL, Weiss RB, Flanigan KM, Wein N. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. J Vis Exp. 2021 Apr 3;
Stephenson AA, Flanigan KM. Gene editing and modulation for Duchenne muscular dystrophy. Prog Mol Biol Transl Sci. 2021; 182: 225-255.
Apkon S, Kinnett K, Cripe L, Duan D, Jackson JL, Kornegay JN, Mah ML, Nelson SF, Rao V, Scavina M, Wong BL, Flanigan KM. Parent Project Muscular Dystrophy Females with Dystrophinopathy Conference, Orlando, Florida June 26 - June 27, 2019. J Neuromuscul Dis. 2020 Dec 22;
Miller NF, Alfano LN, Iammarino MA, Connolly AM, Moore-Clingenpeel M, Powers BR, Tsao CY, Waldrop MA, Flanigan KM, Mendell JR, Lowes LP. Natural History of Steroid-Treated Young Boys With Duchenne Muscular Dystrophy Using the NSAA, 100m, and Timed Functional Tests. Pediatr Neurol. 2020 Dec; 113: 15-20.
Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F, PTC124-GD-007-DMD Study Group., ACT DMD Study Group., Clinical Evaluator Training Groups.. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020 Oct; 9: 973-984.
Barthélémy I, Calmels N, Weiss RB, Tiret L, Vulin A, Wein N, Peccate C, Drougard C, Beroud C, Deburgrave N, Thibaud JL, Escriou C, Punzón I, Garcia L, Kaplan JC, Flanigan KM, Leturcq F, Blot S. X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation. Skelet Muscle. 2020 Aug 7; 10: 23.
Koboldt DC, Waldrop MA, Wilson RK, Flanigan KM. The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy. Ann Neurol. 2020 Apr; 87: 487-496.
Abreu NJ, Koboldt DC, Gastier-Foster JM, Dave-Wala A, Flanigan KM, Waldrop MA. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2. Am J Med Genet A. 2020 Mar; 182: 557-560.
Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L. Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 Mar; 41: 632-640.
Waldrop MA, Yaou RB, Lucas KK, Martin AS, O’Rourke E, FILNEMUS., Ferlini A, Muntoni F, Leturcq F, Tuffery-Giraud S, Weiss RB, Flanigan KM. Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. J Neuromuscul Dis. 2020; 7: 217-229.
Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B. Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect. Genet Med. 2019 Dec; 21: 2713-2722.
Waldrop MA, Flanigan KM. Update in Duchenne and Becker muscular dystrophy. Curr Opin Neurol. 2019 Oct; 32: 722-727.
Saville JT, Flanigan KM, Truxal KV, McBride KL, Fuller M. Evaluation of biomarkers for Sanfilippo syndrome. Mol Genet Metab. 2019 Sep - Oct; 128: 68-74.
Johnston TP, Cripe LH, Mah ML, Moore-Clingenpeel M, Young C, Flanigan KM, Mendell J, Hor KN. Young Becker Muscular Dystrophy Patients Demonstrate Fibrosis Associated With Abnormal Left Ventricular Ejection Fraction on Cardiac Magnetic Resonance Imaging. Circ Cardiovasc Imaging. 2019 Jul; 12: e008919.
Connolly AM, Zaidman CM, Golumbek PT, Cradock MM, Flanigan KM, Kuntz NL, Finkel RS, McDonald CM, Iannaccone ST, Anand P, Siener CA, Florence JM, Lowes LP, Alfano LN, Johnson LB, Nicorici A, Nelson LL, Mendell JR, MDA DMD Clinical Research Network.. Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy. Muscle Nerve. 2019 Jun; 59: 650-657.
Waldrop MA, Pastore M, Schrader R, Sites E, Bartholomew D, Tsao CY, Flanigan KM. Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic. Neuropediatrics. 2019 Apr; 50: 96-102.
Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. Cold Spring Harb Mol Case Stud. 2018 Oct; 4:
Xu R, Jia Y, Zygmunt DA, Cramer ML, Crowe KE, Shao G, Maki AE, Guggenheim HN, Hood BC, Griffin DA, Peterson E, Bolon B, Cheatham JP, Cheatham SL, Flanigan KM, Rodino-Klapac LR, Chicoine LG, Martin PT. An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK.GALGT2 to Leg Skeletal Muscles in the Rhesus Macaque. Mol Ther Methods Clin Dev. 2018 Sep 21; 10: 89-104.
McDonald CM, Wong B, Flanigan KM, Wilson R, de Kimpe S, Lourbakos A, Lin Z, Campion G, DEMAND V study group.. Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy. Ann Clin Transl Neurol. 2018 Aug; 5: 913-926.
Weiss RB, Vieland VJ, Dunn DM, Kaminoh Y, Flanigan KM, United Dystrophinopathy Project.. Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. Ann Neurol. 2018 Aug; 84: 234-245.
Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. Mol Genet Metab. 2018 Jun; 124: 131-134.
Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials. 2018 May 10; 19: 291.
Waldrop MA, Gumienny F, Boue D, de Los Reyes E, Shell R, Weiss RB, Flanigan KM. Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. Am J Med Genet A. 2018 May; 176: 1207-1211.
Waldrop MA, Gumienny F, El Husayni S, Frank DE, Weiss RB, Flanigan KM. Low-level dystrophin expression attenuating the dystrophinopathy phenotype. Neuromuscul Disord. 2018 Feb; 28: 116-121.
Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM. Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. Hum Gene Ther Clin Dev. 2017 Dec; 28: 187-196.
McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E, Clinical Evaluator Training Group., ACT DMD Study Group.. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017 Sep 23; 390: 1489-1498.
Waldrop MA, Boue DR, Sites E, Flanigan KM, Shell R. Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. Pediatr Neurol. 2017 Sep; 74: 11-14.
Zygmunt DA, Crowe KE, Flanigan KM, Martin PT. Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy. Hum Gene Ther. 2017 Sep; 28: 737-746.
Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M. General anesthesia with a native airway for patients with mucopolysaccharidosis type III. Paediatr Anaesth. 2017 Apr; 27: 370-376.
Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišic N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H. Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis. 2017; 4: 293-306.
Wein N, Vulin A, Findlay AR, Gumienny F, Huang N, Wilton SD, Flanigan KM. Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach. J Neuromuscul Dis. 2017; 4: 199-207.

Education

Date of Appointment at Nationwide Children’s Hospital: 01/29/2010

Board Certifications

Neurology Neuromuscular Medicine

Fellowship

University of Utah Medical School

Date Completed: 06/30/1997

Fellowship

Johns Hopkins Hospital

Date Completed: 06/30/1995

Residency

Johns Hopkins Hospital

Date Completed: 06/30/1994

Internship

University of Michigan Health System

Date Completed: 07/30/1991

Medical School

Rush Medical College

Date Completed: 06/09/1990

Education

Date of Appointment at Nationwide Children’s Hospital: 01/29/2010

Board Certifications

Neurology Neuromuscular Medicine

Fellowship

University of Utah Medical School

Date Completed: 06/30/1997

Fellowship

Johns Hopkins Hospital

Date Completed: 06/30/1995

Residency

Johns Hopkins Hospital

Date Completed: 06/30/1994

Internship

University of Michigan Health System

Date Completed: 07/30/1991

Medical School

Rush Medical College

Date Completed: 06/09/1990

Education

Date of Appointment at Nationwide Children’s Hospital: 01/29/2010

Board Certifications

Neurology Neuromuscular Medicine

Fellowship

University of Utah Medical School

Date Completed: 06/30/1997

Fellowship

Johns Hopkins Hospital

Date Completed: 06/30/1995

Residency

Johns Hopkins Hospital

Date Completed: 06/30/1994

Internship

University of Michigan Health System

Date Completed: 07/30/1991

Medical School

Rush Medical College

Date Completed: 06/09/1990

Date of Appointment at Nationwide Children’s Hospital: 01/29/2010

Board Certifications

Neurology Neuromuscular Medicine

Fellowship

University of Utah Medical School

Date Completed: 06/30/1997

Fellowship

Johns Hopkins Hospital

Date Completed: 06/30/1995

Residency

Johns Hopkins Hospital

Date Completed: 06/30/1994

Internship

University of Michigan Health System

Date Completed: 07/30/1991

Medical School

Rush Medical College

Date Completed: 06/09/1990

Date of Appointment at Nationwide Children’s Hospital: 01/29/2010

Board Certifications

Neurology Neuromuscular Medicine

Fellowship

University of Utah Medical School

Date Completed: 06/30/1997

Fellowship

Johns Hopkins Hospital

Date Completed: 06/30/1995

Residency

Johns Hopkins Hospital

Date Completed: 06/30/1994

Internship

University of Michigan Health System

Date Completed: 07/30/1991

Medical School

Rush Medical College

Date Completed: 06/09/1990

Neurology
Neuromuscular Medicine

Professional Experience

2009 - Present Center for Gene Therapy, The Research Institute at Nationwide Children’s Hospital, Principal Investigator

Contact Information

Pediatrics

Call us at: (614) 722-4625

Fax us at: (614) 722-4633

                    Neurology700 Children's DrColumbus, OH 43205 (map)

Contact Information

Pediatrics

Call us at: (614) 722-4625

Fax us at: (614) 722-4633

                    Neurology700 Children's DrColumbus, OH 43205 (map)

Contact Information

Pediatrics

Call us at: (614) 722-4625

Fax us at: (614) 722-4633

                    Neurology700 Children's DrColumbus, OH 43205 (map)

Pediatrics

Call us at: (614) 722-4625

Fax us at: (614) 722-4633

                    Neurology700 Children's DrColumbus, OH 43205 (map)

Call us at: (614) 722-4625

Fax us at: (614) 722-4633

                    Neurology700 Children's DrColumbus, OH 43205 (map)

Call us at: (614) 722-4625

Fax us at: (614) 722-4633

                    Neurology700 Children's DrColumbus, OH 43205 (map)

Call us at:
(614) 722-4625
Fax us at:
(614) 722-4633
Neurology700 Children’s DrColumbus, OH 43205 (map)

Contact Information#

Contact Information