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The First Gene Therapy for Duchenne Muscular Dystrophy (DMD) is Here

Duchenne muscular dystrophy (DMD) had a grim treatment approach prior to June 22, 2023. A newly-approved gene therapy offers hope to those who are diagnosed with the condition.

What is DMD?

DMD is a debilitating genetic disease that causes muscle cells to deteriorate over time. This rare and fatal condition is caused by a defective gene that results in the absence of dystrophin, a protein that is necessary to keep muscle cells intact. The lack of dystrophin leads to difficulty walking, learning disabilities, heart issues, and breathing problems due to the weakening of muscles involved in heart and lung function.

Duchenne is a relentlessly progressive, degenerative disease, robbing children of muscle function.

    — Jerry Mendell, M.D., pediatric neurologist and principal investigator in Center for Gene Therapy at Nationwide Children’s Hospital

Symptoms associated with DMD typically begin between 3 to 6 years of age, and mainly affect males. Approximately 1 in every 3,300 boys are affected by this disease. Due to heart and respiratory failure, patients with DMD often don’t survive past their twenties.

New Treatment Approval

Traditional DMD treatments can address the symptoms of the disease, but are unable to provide comprehensive therapy that focuses on the defective gene itself. However, decades of perseverance, devotion, and research led to the development and recent FDA approval of Elevidys—the first and only gene therapy for treatment of certain patients with DMD.

Elevidys is designed to deliver an encoding gene into the body’s muscles that stimulates the production of dystrophin proteins that are present in normal muscle cells, but absent in those of DMD patients. Elevidys is administered only once as an intravenous infusion.

Elevidys received FDA approval through the accelerated approval pathway, which allows patients earlier access to promising new treatments while the manufacturer conducts clinical trials to confirm the predicted benefits. The confirmatory trial, EMBARK, is expected to publish results in late 2023.

Elevidys has a flat WAC price of $3.2M which will be consistent for all patients regardless of weight or number of vials required for treatment. Instead of an outcomes-based payment approach, the manufacturer’s CEO, Douglas Ingram, stated they are working on “some innovative concepts” with payers.

Since Elevidys will likely be part of the medical benefit, it is imperative that groups work with their consulting teams and vendors regarding coverage updates. Elevidys joins a growing list of recently-approved gene therapy drugs that treat rare conditions.

Claims for drugs like Elevidys can constitute a financial burden for health plan sponsors. Employers who want to hedge against this risk may want to consider purchasing stop loss insurance.