Jun 27, 2023
On June 22nd, 2023, the FDA provided accelerated approval for ELEVIDYS™, the first gene therapy to treat Duchenne Muscular Dystrophy (DMD)2.
DMD is a genetic disorder that results in progressive muscle degeneration due to altered expression of the protein dystrophin, which is responsible for strengthening muscle fibers and facilitating safe muscle contractions1,4. Without proper dystrophin expression, muscle cells become fragile and easily damaged. The symptom onset is commonly seen between the ages of 2 and 3, and predominantly effects boys due to the gene having an X-linked recessive inheritance pattern1.
This one-time intravenous infusion therapy utilizes Adeno-associated Virus (AAV-rh74) to deliver a shortened version of the dystrophin gene (mini-dystrophin) into muscle tissues of boys with DMD, directly addressing the genetic defect. This is an improvement from previous treatments that utilize “exon skipping” which allows the body to produce more dystrophin but requires regular intravenous infusions3.
ELEVIDYS™ gained FDA approval through the Accelerated Approval Pathway, which fast-tracks drug approval for serious or life-threatening conditions with unmet medical needs. The approval was based on a study divided into two parts: a 48-week trial where participants received either ELEVIDYS™ or a placebo, and a subsequent 48-week period where treatments were switched. The study demonstrated a positive effect on a surrogate endpoint (increase in the expression of micro-dystrophin) that predicts clinical benefit in children aged 4 to 5 with Duchenne muscular dystrophy (DMD)2.
Considering the risks, the FDA recognized the urgent need for treatment due to the life-threatening nature of DMD in children. However, ELEVIDYS™ has not yet proven improved motor function. Therefore, as a condition of approval, the FDA requires a separate study to confirm its clinical benefits. This ongoing study assesses physical function and mobility in DMD patients with a confirmed gene mutation.
Note: ELEVIDYS is a registered trademark of Sarepta Therapeutics.
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- Duchenne muscular dystrophy (DMD) - diseases. Muscular Dystrophy Association. (2021, April 29).
- FDA. (2023, June 22). FDA approves first gene therapy for treatment of certain patients with Duchenne muscular dystrophy. U.S. Food and Drug Administration.
- Muscular dystrophy association celebrates FDA approval of Sarepta Therapeutics’ elevidys for treatment of Duchenne muscular dystrophy. Muscular Dystrophy Association. (2023, June 22).
- U.S. National Library of Medicine. (2017, February 1). DMD gene: Medlineplus genetics. MedlinePlus.