Neuromuscular Disorders Research

Jerry R. Mendell, MD, Director of the Center for Gene Therapy at The Research Institute at Nationwide Children’s Hospital, is an international leader in the development of innovative treatments for neuromuscular diseases. A primary focus of the Center for Gene Therapy is curing muscular dystrophies and Nationwide Children’s Hospital has been part of the Muscular Dystrophy Association’s Clinical Research Network since 2008. Investigators are currently focused on developing treatments for:

• Amyotrophic lateral sclerosis (ALS)
• Becker muscular dystrophy
• Charcot-Marie-Tooth Neuropathy
• Duchenne muscular dystrophy
• Fasioscapulohumeral muscular dystrophy
• Inclusion body myositis
• Limb girdle muscular dystrophy type 2D (alpha sarcoglycanopathy)
• Spinal muscular atrophy

Learn about Heart Research in Neuromuscular Disease, Duchenne Muscular Dystrophy Research and Spinal Muscular Atrophy Research.

Neuromuscular Disorders Research Faculty

Louis Chicoine, MD
K. Reed Clark, PhD
Kevin Flanigan, MD
Haiyan Fu, PhD
Scott Harper, PhD
Brian K. Kaspar, PhD
Paul T. Martin, PhD
Douglas M. McCarty, PhD
Jerry R. Mendell, MD
Federica Montanaro, PhD
Louise Rodino-Klapac, PhD
Zarife Sahenk, MD, PhD

Latest Findings in Neuromuscular Disorders Research

Animal Model Suggests Potential New Therapy for Myotublar Myopathy Symptoms

This study discusses evidence from animal models suggesting that pyridostigmine treatment may help improve some symptoms of myotubular myopathy.

Access an abstract of this study: Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Dis Model Mech. 2012 May 24. [Epub ahead of print]

Gene Therapy for Muscular Dystrophy: Lessons Learned and Path Forward

This article discusses Nationwide Children’s experience and lessons learned from clinical trials using molecular-based approaches to treat muscular dystrophies.

Access an abstract of this study: Gene therapy for muscular dystrophy: Lessons learned and path forward. Neurosci Lett. 2012 May 17. [Epub ahead of print]

New Gene Transfer Strategy Shows Promise for Limb Girdle and Other Muscular Dystrophies

The challenge of treating patients with genetic disorders in which a single mutated gene is simply too large to be replaced using traditional gene therapy techniques may soon be a thing of the past. This study describes a new gene therapy approach capable of delivering full-length versions of large genes and improving skeletal muscle function. The strategy may hold new hope for treating dysferlinopathies and other muscular dystrophies.

Access an abstract of this study: Homologous Recombination Mediates Functional Recovery of Dysferlin Deficiency following AAV5 Gene Transfer. PLoS One. 2012;7(6):e39233. Epub 2012 Jun 15.

Read the press release.

Listen to the Muscular Dystrophy Podcast.

RNAi Therapy to Inhibit the DUX4 Gene May Be a Treatment for FSHD

Inhibiting the DUX4 gene has emerged as a promising therapeutic strategy for facioscapulohumeral muscular dystrophy (FSHD). This study found that delivering therapeutic microRNA’s through AAV vector delivery corrected DUX4-associated myopathy in mouse muscles.  These results provide proof that RNAi therapy may be a potential treatment for FSHD.

Access an abstract of this study: RNA Interference Inhibits DUX4-induced Muscle Toxicity In Vivo: Implications for a Targeted FSHD Therapy. Mol Ther. 2012 Apr 17. doi: 10.1038/mt.2012.68. [Epub ahead of print]

Current Neuromuscular Disorders Research Grants

RNAi Therapy for Dominant Limb Girdle Muscular Dystrophy Type 1A, National Institutes of Health (Scott Harper)

DUX4 inhibition as a therapeutic strategy for FSHD, National Institutes of Health (Scott Harper)

Glycosyltransferase Therapy for Myopathies, National Institutes of Health (Paul Martin)

Translational Research in the Dystrophinopathies, National Institutes of Health (Kevin Flanigan)

Translational Research in the Dystrophinopathies, National Institutes of Health (Kevin Flanigan)

Unique cardiac interactions of dystrophin and their role in dilated cardiomyopathy, American Heart Association of Ohio (Eric Johnson)

AAV9 Gene Therapy for treating Mucopolysaccharidosis IIIB by systemic vector delivery, Ben’s Dream-Sanfilippo Research Foundation (Haiyan Fu)

Role of Potent Trophic Factors on Glia and Motor Neurons in ALS, National Institutes of Health (Brian Kaspar)

The Heart in Duchenne Muscular Dystrophy, Muscular Dystrophy Association, Inc (Kevin Flanigan)

Delivery of Therapeutic Genes in Motor Neuron Disease, Ohio State University Research Foundation, National Institutes of Health, National Institute of Neurological Disorders and Stroke (Brian K. Kaspar)

Vascular Delivery of alpha-Sarcoglycan for Limb Girdle Muscular Dystrophy 2D, National Institutes of Health (Jerry Mendell)

NT-3 Gene Therapy to Improve Peripheral Nerve Function Induced by Genetic Defect, National Institutes of Health (Zarife Sahenk)

Targeting Astrocytes as a Therapy for ALS: Testing the Effectiveness of AAV9 as a Therapeutic Vector for Gene Delivery across the Blood Brain Barrier, Robert Packard Center for ALS Research at Johns Hopkins (Brian Kaspar)

“This Month in Muscular Dystrophy” Podcast

Listen to both current and previous editions of the Muscular Dystrophy Podcast.

• Gene Transfer of Follistatin: Dr. Mendell Discusses Implications for Muscle Disease
• Prof. Kate Bushby Discusses Clinical Care Standards in Muscular Dystrophy
• Dr. Federica Montanaro Discusses Cardiomyopathy in Becker Muscular Dystrophy
• Dr. Annemieke Aartsma-Rus Discusses Progress in Antisense Oligonucleotide Therapies
• Dr. Scott Harper Discusses DUX4 as a Potential Candidate Gene for Facioscapulohumeral Muscular Dystrophy

Of Note

Nationwide Children’s Hospital Researchers Receive Neurology Award for Contribution to Clinical Neuroscience
Jerry Mendell, MD, director of the Center for Gene Therapy in The Research Institute at Nationwide Children’s Hospital, and his fellow researchers, are the latest recipients of the Annals of Neurology prize for an outstanding contribution to clinical neuroscience. Read more>