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FDA approves first gene therapy for Duchenne muscular dystrophy

June 22, 2023

The Food and Drug Administration (FDA) has approved the first gene therapy for the treatment of Duchenne muscular dystrophy (DMD) in patients ages 4 through 5 years with a confirmed mutation in the DMD gene.

The FDA granted approval of Elevidys (delandistrogene moxeparvovec-rok) from Sarepta Therapeutics Inc. through an accelerated approval pathway, under which it may approve drugs for serious or life-threatening diseases where there is an unmet medical need.

About one in 3,300 boys is affected by DMD, a rare, serious genetic condition that worsens over time. DMD leads to weakness and wasting away of the muscles, with symptoms that include trouble walking and running, falling frequently, fatigue, learning difficulties, heart issues and breathing problems.

As the disease progresses, cardiac and respiratory issues can become life-threatening.

The disease occurs because of a defective gene that results in the absence of dystrophin — a protein that helps keep the body’s muscle cells intact.

Most current treatments for DMD address only symptoms, not the underlying cause.

Elevidys is a recombinant gene therapy that delivers into the body a gene that leads to production of Elevidys micro-dystrophin, a shortened protein (138 kDa, compared to the 427 kDa dystrophin protein of normal muscle cells) that contains selected domains of the dystrophin protein present in normal muscle cells.

The product is given to patients as a single intravenous dose.

“This is a very exciting approval for patients, families and clinicians in the Duchenne community,” said Garey H. Noritz, M.D., FACP, FAAP, chair of the AAP Council on Children with Disabilities and professor of pediatrics at The Ohio State University.

The FDA granted approval of Elevidys based on an evaluation of data submitted to the sponsor, finding it was “reasonably likely to predict clinical benefit” in individuals 4 to 5 years old with DMD who do not have significant pre-existing antibody titers against the AAV rh74 vector or have other contraindications based on the inclusion criteria of the clinical trials.

Additional data will be required, and the FDA will consider if further action such as a revised indication or withdrawal of Elevidys may be necessary.

“Today’s approval addresses an urgent unmet medical need and is an important advancement in the treatment of Duchenne muscular dystrophy, a devastating condition with limited treatment options, that leads to a progressive deterioration of an individual’s health over time,” Peter Marks, M.D., Ph.D., director of the FDA’s Center for Biologics Evaluation and Research, said in a news release.

Data submitted to the FDA show that the microdystrophin gene can be successfully delivered to patients and cause the muscles to express the microdystrophin protein, said Dr. Noritz, division chief in the Complex Health Care Program at Nationwide Children’s Hospital in Columbus, Ohio, where the therapy was invented. Dr. Noritz was not involved with the studies.

“This has great promise for improving the muscle function in boys with Duchenne with hopes that it can help them maintain breathing, heart function and ambulation beyond what current therapies can deliver,” he said. “The magnitude of the benefit has yet to be shown, but accelerated approval means that more children can access the medication while studies go on.”

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