A Gene Therapy for DMD


human skeleton

There are a number of genetic disorders that interfere with normal muscle function. Duchenne’s Muscular Dystrophy or DMD is one of them. A genetic mutation stops a functional dystrophin protein from being made. It’s a very large protein that helps to connect structures within muscle cells called the cytoskeleton to proteins that form the extracellular matrix outside the cell.  

Without a functional dystrophin, when muscle cells contract, they become damaged and eventually die. The muscles eventually wastes away and fatty or fibrous tissues take their place. 

DMD primarily affects boys and symptoms show around three to six years old. They start to have trouble walking and running, eventually breathing, and heart issues appear. Patients often die in their twenties and thirties since there’s no cure.   

But the FDA just approved the first gene therapy for DMD called ELEVIDYS. Since the dystrophin gene is very large, using a virus to deliver it into cells hasn’t been possible. Instead, ELEVIDYS uses an adeno-associated virus called AAVrh-seventy-four engineered to carry the genetic information to cells so that they can produce micro-dystrophin. These are parts of the protein vital to its function.  

Boys given ELEVIDYS produce these micro-dystrophin and even though it’s just one-third of the protein it should still have some of its normal function. They don’t know yet whether it will restore partial function in muscle cells and protect them from damage. If it does, boys would be able to live more active and maybe even longer lives.  

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More Information

FDA Approves First Gene Therapy for Treatment of Certain Patients with Duchenne Muscular Dystrophy
The U.S. Food and Drug Administration in June approved Elevidys, the first gene therapy for the treatment of pediatric patients 4 through 5 years of age with Duchenne muscular dystrophy (DMD) with a confirmed mutation in the DMD gene who do not have a pre-existing medical reason preventing treatment with this therapy. 

From Bench to Bedside: Patient with Duchenne Muscular Dystrophy Receives First Dose of Gene Therapy Developed at Nationwide Children’s Hospital
Nationwide Children’s administers its first dose of ELEVIDYS since FDA approval. In a landmark moment for the Abigail Wexner Research Institute at Nationwide Children’s, a 5-year-old from Bellefontaine, Ohio, received the first dose of a recently approved gene therapy for Duchenne muscular dystrophy at Nationwide Children’s Hospital, where the therapy was invented and initially tested.

Elevidys: The Only Gene Therapy for Duchenne muscular distrophy
ELEVIDYS is a prescription gene therapy used to treat ambulatory children aged 4 through 5 years old with Duchenne muscular dystrophy (DMD) who have a confirmed mutation in the dystrophin gene. ELEVIDYS was approved under accelerated approval. Verification of a clinical benefit may be needed for ELEVIDYS to continue to be approved.