Rare Disease Report

Sarepta Begins Study in Non-Ambulatory Duchenne Muscular Dystrophy Patients

NOVEMBER 12, 2014

The image above is from the early 1950s showing First Lady Bess Truman talking with Michael Danna at the official opening of the 1952-53 Muscular Dystrophy Appeal Campaign. Over 60 years has past since that photo was taken but only now are wheelchair-bound boys with Duchenne muscular dystrophy being included in clinical trials.

Sarepta Therapeutics announced it has initiated dosing in a clinical study of eteplirsen in non-ambulatory patients with Duchenne muscular dystrophy.  Until now,  most trials involving Duchenne were restricted to patients who can take the 6-minute walk test.  The study will include approximately 20 patients who are non-ambulatory or who cannot meet the requirement of completing a baseline 6 minute walk test score.  All patients must have genotypes amenable to exon 51 skipping.

The study will be conducted at several sites in the United States  to evaluate the safety of eteplirsen in DMD patients over 96 weeks of dosing. Secondary efficacy outcomes will also be measured.

Edward Kaye, M.D., Sarepta’s Chief Medical Officer said:

“The initiation of this eteplirsen study represents an important milestone for patients, their families, and the DMD community.”

“Expanding the DMD population to include patients who are older and non-ambulant demonstrates our strong commitment to develop eteplirsen for patients at all stages of DMD and will provide additional data to support our planned NDA filing.”

Fawn Leigh, M.D., of Mass General Hospital and a principal investigator in the study added:

"Eteplirsen is a potential breakthrough treatment for patients with DMD. I am pleased to be able to offer this promising disease-modifying treatment to my patients and to potentially alter the course of this devastating disease.”

About Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is a progressive muscle disorder caused by the lack of functional dystrophin protein. Patients with Duchenne muscular dystrophy lose the ability to walk as early as age 10 and experience life-threatening lung and heart complications in their late teens and twenties.

There are an estimated 35,000 patients with Duchenne in the United States and Europe but the population has many subsets based on mutations of the dystrophin gene.

There are currently no treatments for these patients but several drugs are in late stage clinical development, including Both Sarepta’s eteplirsen and Prosensa’s drisaperson which should be effective in the same 13% of the Duchenne population who would benefit from exon 51 skipping therapy (i.e., those with mutations near exon 51 of the dystrophin gene) and PTC Therapeutics’ ataluren which  should be effective in another 13% subset who have nonsense mutations in the dystrophin gene. Lilly’s tadalafil is also in a phase 3 clinical trial.
Photograph of First Lady Bess Truman at the White House with Michael Danna of South Ozone Park, New York, the Muscular Dystrophy Appeal Poster Boy, who is holding in his lap a cocker spaniel named Buttons, Jr., his gift to the First Family, at the official opening of the 1952-53 Muscular Dystrophy Appeal Campaign courtesy wikimedia commons.

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