Since patients with Duchenne Muscular Dystrophy (DMD) lack dystrophin, reintroducing it through gene therapy may cause the immune system to mistake it for an antigen, or foreign protein, which could lead to a reaction that destroys the muscle that produces it and jeopardize the effectiveness of the treatment.
The Immune System May Inhibit Dystrophin Production
The results imply that gene therapy, such as Elevidys (delandistrogene moxeparvovec), which aims to restore the missing protein dystrophin, may be hampered by the body’s immune system, possibly preventing it from having any therapeutic effect. (Frequently Asked Questions About Elevidys)
Mostly affecting boys, DMD is a debilitating genetic disorder. It results in premature death, loss of movement in early adolescence, and unrelenting muscular disintegration. Since there is currently no treatment, gene therapy has been seen as one of the most promising avenues for advancement.
With strong hopes that the treatment, which restores a vital muscle protein called dystrophin, will change the lives of individuals afflicted, Elevidys received expanded approval from the U.S. Food and Drug Administration in 2024. A more somber picture is painted by the most recent results from the Phase 3 EMBARK trial. (EMBARK Study of Elevidys)
Immune System Dilemma in DMD Gene Therapies
The outcomes were unsatisfactory. The immune system’s response to the reintroduced protein may be the cause of the treatment’s lack of noticeable improvement in muscle function, according to Professor Darek Gorecki, a senior author of the GT paper from the University of Portsmouth’s School of Medicine, Pharmacy, and Biological Sciences.
This type of reaction may be particularly common in some patients. Chronic muscle inflammation, exposure to trace levels of dystrophin through so-called “revertant fibers,” or the existence of reactive immune cells that were not normally deleted during early development are risk factors.
The study further emphasizes how complicated DMD is. Any effective treatment will probably need to take into account the systemic effects of dystrophin, which extend beyond muscle to include the brain, bones, and other tissues.
Still, scientists have hope. Professor Gorecki went on to say, “Gene therapy for DMD is not done yet.” “It serves as a reminder that we must go further in order to customize treatments for each patient and address immunogenicity directly.”
The work contributes to a growing knowledge that the journey from lab to life-changing medicine is rarely simple and that even the most advanced genetic therapies will require a customized, multidisciplinary approach.
Considering this research and thesis, shouldn’t we ask why Elevidys gene therapy is being sold for $3 million?
Read More: Clinical Trials Review of Elevidys Gene Therapy: Is Elevidys Cost Worthy?
