Duchenne Muscular Dystrophy Research

Duchenne muscular dystrophy (DMD) is the most common life-threatening childhood form of muscular dystrophy. As it is caused by genetic defects that lead to missing or non-functional proteins, faculty members are investigating the possibility of gene replacement or gene therapy as treatment options for DMD.

Years of leadership by Nationwide Children’s Hospital faculty in diagnosing and developing new treatment strategies for DMD led the National Institutes of Health to designate Nationwide Children’s Hospital as a Paul. D. Wellstone Muscular Dystrophy Cooperative Research Center (MDCRC). The MDCRC allows Nationwide Children’s Hospital researchers to further develop methods to overcome immune barriers to gene correction for Duchenne muscular dystrophy.

Nationwide Children's Hospital is also one of five national centers, part of the Muscular Dystrophy Association's DMD Clinical Research Network, developed to speed the course of clinical trials.

Learn about Heart Research in Neuromuscular Disease.

Duchenne Muscular Dystrophy Research Faculty

Hugh D. Allen, MD
K. Reed Clark, PhD
Kevin Flanigan, MD
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
Christopher M. Walker, PhD

Latest Findings in Duchenne Muscular Dystrophy Research

Evidence-Based Path to Newborn Screening for Duchenne Muscular Dystrophy

This study describes a 2-tier system of analysis for newborn screening for DMD.

Access an abstract of this study: Evidence-based path to newborn screening for duchenne muscular dystrophy. Ann Neurol. 2012 Mar;71(3):304-13.

Becker Muscular Dystrophy Due to an Inversion of Exons 23 and 24 of the DMD Gene

This report describes a case of Becker muscular dystrophy caused by an inversion of exons 23 and 24 of the Duchenne muscular dystrophy gene.  The results demonstrate the limits of sensitivity and specificity of current tests and highlight the need for more detailed analysis when intronic deletions are detected by comparative genome hybridization methods.

Access an abstract of this study: Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene. Muscle Nerve. 2011 Nov;44(5):822-5. doi: 10.1002/mus.22226.

An Alternative Mouse Model to Study Motor Function in DMD

The mdx mouse is the most widely used animal model of DMD and has been extremely useful to study disease mechanisms and to screen new therapeutics. However, unlike patients with DMD, mdx mice have a very mild motor function deficit, posing significant limitations for its use as a platform to assess the impact of treatments on motor function.
It has been suggested that an mdx variant, the mdx(5cv) mouse, might be more severely affected. Overall, our findings indicate that the mdx and mdx(5cv) mouse models of DMD are not interchangeable and identify the mdx(5cv) mouse as a valuable platform for preclinical studies that require assessment of muscle function in live animals.

Access an abstract of this study: mdx(5cv) Mice Manifest More Severe Muscle Dysfunction and Diaphragm Force Deficits than Do mdx Mice. Am J Pathol. 2011 Sep 3. [Epub ahead of print] 

Current Duchenne Muscular Dystrophy Research Grants

Exon Skipping as a Treatment for Duplication Mutations in DMD, Anonymous (Kevin Flanigan)

Exploratory Study to Assess Two Doses of Study Drug in the Treatment of Ambulant Boys with DMD, Anonymous (Kevin Flanigan)

Overcoming Immune Barriers to Gene Correction for Duchenne Muscular Dystrophy, National Institutes of Health (Jerry Mendell)

A double-blind, escalating dose, randomized, placebo-controlled study to assess the pharmacokinetics, safety and tolerability of single subcutaneous injections of study drug in non-ambulant subjects with Duchenne muscular dystrophy, Anonymous (Kevin Flanigan)

Nf-kB Inhibition Therapy for Duchenne Muscular Dystrophy, Ohio State University Research Foundation (Jerry Mendell)

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

Follistatin Gene Therapy to Improve Quadriceps Muscle Strength, The Ohio State University Research Foundation (Jerry Mendell)

“This Month in Muscular Dystrophy” Podcast

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

• Dr. Jerry Mendell Discusses Dystrophin Immunity in Duchenne Muscular Dystrophy
• Dr. Craig McDonald Discusses the Six-Minute Walk Test as an Outcome Measure in DMD

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>

Nationwide Children’s and MDA Collaborate on First Phase II Clinical Trial of Exon-51 Skipping Drug Eteplirsen in DMD

Nationwide Children’s is the site for the Muscular Dystrophy Association-funded first phase II placebo-controlled, multiple-dose efficacy, safety, tolerability and pharmacokinetics clinical trial of an exon-51 skipping drug, eteplirsen, as a potential therapy for Duchenne muscular dystrophy (DMD). Read more>