Duchenne Muscular Dystrophy Gene Therapy Falters in Clinical Trial

According to a story from Globe Newswire, the genetic medicine company Sarepta Therapeutics has announced top-line data from part one of its clinical trial. This trial is investigating its experimental gene transfer therapy, SRP-9001, as a potential treatment for children living with Duchenne muscular dystrophy, a rare genetic disorder. Unfortunately, the treatment failed to attain statistical significance in its primary functional endpoint.

About Duchenne Muscular Dystrophy (DMD)

Duchenne muscular dystrophy is a neuromuscular disease, and it is one of the more severe types of muscular dystrophy. It is characterized by progressive muscle weakness that usually begins around age four and worsens quickly. As an X-linked genetic disease, boys are mostly affected, with girls only occasionally displaying mild symptoms. The disease is caused by mutations of the dystrophin gene. Symptoms of Duchenne muscular dystrophy include falling, abnormal walking posture, eventual loss of walking ability, muscle fiber deformities, intellectual disability (not in all cases), enlargement of the tongue and calf muscles, skeletal deformities, muscle atrophy, heart abnormalities, and difficulty with breathing. Treatment includes a variety of medications and therapies that can help alleviate symptoms and slow disease progression. Lifespan is usually into the thirties with good care. Better treatments for this disease are urgently needed. To learn more about Duchenne muscular dystrophy, click here.

Trial Findings

The study achieved its primary biological endpoint 12 weeks following administration of the therapy. This endpoint was expression of the micro-dystrophin protein, which was a mean of 28.1 percent in the treated patients. A total of 41 patients between the ages of four and seven years were involved in this trial. A number of secondary endpoints were also reached, such as reduction in creatine kinase, vector genome copiers per nucleus, and percent positive fibers.

The primary functional endpoint in this study was increase in NSAA score, which is a rating scale consisting of 17 items meant to assess the functional abilities of children with Duchenne muscular dystrophy. Patients showed increased scores, but the increase was not statistically significant for the entirety of the group; however, statistical significance was reached in the 4-5 year age group. The safety profile of SRP-9001 was generally considered acceptable, although 85 percent of those treated experienced an adverse event, with most being mild or moderate in severity.

Though the results were not fully satisfactory, Sarepta plans to continue its investigation of SRP-9001 in the ongoing trial and in a future clinical trial as well.

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