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

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

Exon-Skipping Shows Promise in Duchenne Muscular Dystrophy

Results from a Phase IIb extension trial of the drug eteplirsen show an increased ability to walk in boys with Duchenne muscular dystrophy.

Newborn Screening for Duchenne Muscular Dystrophy Shows Promise as an International Model

This study details a 4-year pilot study of a Duchenne muscular dystrophy newborn screening process in Ohio.  The approach provides evidence that this approach could be implemented if approved by regulatory bodies at a state level or through the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.

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

Read the press release.

Visit our DMD Newborn Screening web page.

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]

Emerging Drugs for Duchenne Muscular Dystrophy

This article discusses emerging drugs for Duchenne muscular dystrophy.  The review emphasizes that the goal of treatment should be to find a product at least as good as glucocorticoids with a lower side effect profile or with a significant glucocorticoid sparing effect.

Access an abstract of this study: Emerging drugs for Duchenne muscular dystrophy. Expert Opin Emerg Drugs. 2012 Jun;17(2):261-77.

Current Duchenne Muscular Dystrophy Research Grants

A new DMD model with humanized glycome, National Institutes of Health (Paul Martin)

Open-Label, Multiple-Dose, Efficacy, Safety, and Tolerability Study of study drug in Subjects with Duchenne Muscular Dystrophy who Participated in Study 201, Anonymous (Jerry Mendell)

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

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>