Emma Ciafaloni, MD, on the State of Gene Therapy in Neuromuscular Disease

“If you had told me, when I went to medical school, that we will have a treatment that will make such a transformative impact, it would have been hard to believe, 20 to 30 years ago. And now we're really seeing extraordinary results. So it's a very exciting time: for the older neuromuscular disease experts, just to be able to witness it; and for the younger ones, very inspiring, because that is really their future.”

Gene therapy for the treatment of neuromuscular disease (NMD) is coming of age, with several new investigational treatments, such as Sarepta Therapeutics’ SRP-9001, nearing the commercial stage.

In an interview with CGTLive, Emma Ciafaloni, MD, a professor of neurology and pediatrics at University of Rochester Medical Center, spoke about her presentation in the session “Updates on Gene Therapy in NMD: Current & Emerging Therapies” at the Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, held in Dallas, Texas, March 19-22, 2023.

Ciafaloni noted that at this year’s MDA conference, there has been a large amount of discussion focused on gene therapy, especially for Duchenne muscular dystrophy. She gave a brief overview of the current state of gene therapy in NMD, mentioning Zolgensma's approval for spinal muscular atrophy in 2019, and noting that several investigational products for the treatment of DMD have reached the late stages of clinical development. Ciafaloni also discussed some of the hurdles that remain in this therapeutic space, specifically highlighting the challenge of carrying over treatments from clinical trials into real-world clinical practice in a safe, effective, and equitable way.

Editor’s Note: Ciafaloni disclosed a consultancy or paid advisory role with Sarepta Therapeutics; grants/research funding pending with Sarepta Therapeutics; grants received/research funding with Sarepta Therapeutics; honoraria; and lecture fees for speaking at the invitation of a commercial sponsor.