Continuing the Marathon of Muscular Dystrophy Research

This is the third part of an interview with Jeffrey Chamberlain, PhD. For the first part, click here. For the second part, click here.

Jeffrey Chamberlain, PhD

Sarepta Therapeutics’ delandistrogene moxeparvovec-rokl (marketed as Elevidys) was the first, and still remains the only, gene therapy product to be approved by the FDA for Duchenne muscular dystrophy (DMD). The field of neuromuscular disease is not content to rest on its laurels, however, as work remains to be done to improve gene therapy for DMD and to potentially bring gene therapy to other neuromuscular diseases, as well.

CGTLive® interviewed Jeffrey Chamberlain, PhD, Professor, Neurology and Medical Genetics, and Adjunct Professor, Biochemistry, and McCaw Endowed Chair of Muscular Dystrophy at University of Washington, at the 2024 Muscular Dystrophy Association (MDA) Clinical and Scientific Conference, held March 3-6, in Orlando, Florida, to get his insight on ongoing trends in the field. Chamberlain emphasized the need to bring back a focus on basic science, even if it takes a very long time for nonclinical findings to translate to patient use.

CGTLive: Are there any trends in the muscular dystrophy field that you feel have been growing lately?

Jeffrey Chamberlain, PhD: There's a number of exciting trends. One, just at the basic genetics level, more and more muscular dystrophy genes continue to be identified, which has been surprising. Maybe 20 years ago, we thought there were in the range of 40 to 50 different types of muscular dystrophy and that number keeps growing. So it gets a little more complicated in trying to sort out which dystrophy is which. Clinically, they're often very similar, but obviously at the genetic level you can sort them out. The other thing is there's been an increase in approvals for newborn screening. Newborn screening I think is a very important approach because some of the muscular dystrophies appear to be much more amenable to treatment the earlier you get in there. That's been seen clearly with spinal muscular atrophy (SMA), which is probably the most successful gene therapy approved to date. There's been well over 3000 kids that have been treated with gene therapy for SMA. But with DMD and some of the other muscular dystrophies, we used to think you could wait a lot longer, but now the data is coming out, from Kevin Flanagan and other people, that an earlier intervention could be much more effective.

The other thing, though, is recognizing some of the limitations of the current gene therapies and not just saying "oh, we got one approved, let's stop there"—but finding ways to increase the potency of those gene therapies and apply those same technologies to other diseases. The number of diseases where gene therapies are being applied now is growing significantly and hopefully we'll have not only more and more approvals in the coming year, but continuing approvals beyond that to tweak and advance the current therapies. You don't want to just stop with the first approval. I think there's a wide recognition at the meeting here this week that we need to do better. There's a lot of good ideas from many, many labs being supported by MDA to to improve those therapies.

I think it's important to recognize progress has being made, but also progress still needs to be made. In fact, that's something that I'm going to try to emphasize a little more at this year's American Society for Gene and Cell Therapy Meeting—to remember that we need to focus on the basic sciences and that often discoveries in the laboratory at a very basic level take 20 years to get into the clinic. It took so long to get many things into the clinic that our society has rightfully so emphasized the clinical trials and the approvals that are that are out there. But I've kind of decided it's time that we need to go back and get a little more of a balance and remember to encourage people to continue making the basic discoveries that are going to drive the next generation therapies.

This transcript has been edited for clarity.

Click here to view more coverage of the 2024 MDA Conference.

REFERENCE
Muscular Dystrophy Association Announces Recipient of 2024 MDA Legacy Award for Achievement in Research, is Jeffrey Chamberlain, Ph.D., Leading Professor in Gene Therapy. News release. January 30, 2024. https://finance.yahoo.com/news/muscular-dystrophy-association-announces-recipient-145900986.html