Full citation: Cope H, Fischer R, Heslop E, McNiff M, Johnson A, Camino E, Denger B, Armstrong N, Thakrar S, Bateman-House A, Beaverson KL, Woollacott IOC, Phillips D, Fernandez V, Ganot A, Donisa-Dreghici R, Mansfield C, Peay H. Clinician Perspectives of Gene Therapy as a Treatment Option for Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2024;11(5):1085-1093.
Gene therapy is an exciting area of research in Duchenne muscular dystrophy (DMD). There are already gene therapies available for some people with DMD in other countries at the time of writing. Although there are no treatments currently approved specifically for DMD in Canada, there are clinical trials underway that Canadians can participate in. Do you ever wonder what doctors think about gene therapy?
In this study, a group of pharmaceutical companies (Pfizer, Regenxbio, Solid Biosciences) and patient advocacy organizations (Duchenne UK, Parent Project Muscular Dystrophy, Smile with Shiv) did a study to find out what doctors who treat people with DMD (we’ll call them treating doctors) in the United States and United Kingdom think of gene therapy as a treatment option for their patients. The treating doctors were chosen based on convenience, which likely means they were known to the people who were doing the study. The treating doctors saw 25 – 500 people with DMD each year. More United States-based doctors saw greater than 100 patients, which might be due to seeing both children and adults with DMD. In the United Kingdom, most doctors only saw children with DMD.
Most of the doctors interviewed thought that there would be benefits of gene therapy for people with DMD, but were concerned about how much benefit would happen from gene therapy, and were concerned about the potential safety risks. During the interviews, some treating doctors were not able to explain the difference between gene therapy and gene editing. One treating doctor said, “I think with gene therapy, we are putting in and introducing a gene to replace the faulty gene or the absent gene. With gene editing, it’s a bit like sort of chopping and cutting and pasting together. So that we can actually create a gene that can be read.”
Does it surprise you that treating doctors are not confident about emerging treatments?
Most of the treating doctors were cautiously optimistic about gene therapy for patients they treat with DMD, although there were some who were very negative or very positive about gene therapy. Many were concerned about how long the effectiveness of the treatment would last, which is not currently known. They had concerns about the use of a viral vector, which is often used to get a person’s body to deliver the gene therapy to the impacted gene. These vectors have no active virus, but there are risks associated with gene therapy. Some treating doctors said they were concerned about serious adverse events or side effects that might happen, which can include death. Unfortunately, they also say that there would be no way to know exactly the amount of benefit or risk that exists from gene therapy for DMD until thousands of people are treated with it. Many of the clinicians rely on how much risk the patients with DMD and their families are willing to tolerate when deciding about all treatment options, not just gene therapy.
Have you thought about gene therapy for DMD? The treating doctors in this study were given the opportunity to ask the questions about gene therapy that are most important for them. These treating doctors asked questions about which patients with DMD should get gene therapy, at what age would be most beneficial, how long the treatment would be effective, as well as general questions about safety and effectiveness. These questions might be valuable for you to use as a basis for conversations with doctors about treatment options for DMD. You can see the full list of questions in Table 2 of the publication at below, which may be helpful to develop your own list of questions to ask your doctor.
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