Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) will take center stage early next year at the first in-person annual gathering of the Muscular Dystrophy Association (MDA) since March 2019.
The 2022 MDA Clinical & Scientific Conference, set for March 13-16 in Nashville, Tennessee, is expected to attract between 700 and 800 people in person. But hundreds more worldwide will attend virtually, thanks to the event’s hybrid nature, said MDA President and CEO Donald S. Wood, PhD.
“Although we weren’t able to have in‑person events for the last couple of years because of COVID, the benefit was that we learned how to do videoconferencing at a higher level than we’d ever done before,” Dr. Wood told Rare Disease Advisor in a recent interview. “I’m anticipating one of the biggest conferences we’ve ever had, in terms of the numbers of scientists and clinicians who get to participate. It’s an exciting moment.”
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Sharon Hesterlee, PhD, the MDA’s chief research officer, called the annual gathering “the only conference in the neuromuscular space that really combines everything from basic research to clinical care, treatment, and management.”
“What that does—especially when we’re having the conference in person—is allows our basic scientists to meet the clinicians,” she said. “They don’t always know who’s treating patients, and vice versa. For example, they can sit in on a session about managing patients with Pompe disease, then go back to their lab and take that knowledge with them. It creates unique relationships that feed on one another.”
One of the most significant recent breakthroughs in rare diseases, Dr. Hesterlee said, is the fact that 3 disease-modifying drugs are now available to treat SMA: Biogen’s nusinersen (Spinraza®), the Novartis gene therapy onasemnogene abeparvovec-xioi (Zolgensma®), and Roche’s risdiplam (Evrysdi®).
“That changes how you take care of patients. After you’ve treated an infant, that child is still going to have SMA. There’s a chance he or she won’t be 100% similar to someone who doesn’t have SMA, but it’ll be a different kind of care,” Dr. Hesterlee said, adding that one hot topic now is whether it’s OK to combine nusinersen and onasemnogene abeparvovec.
“We have 500 SMA patients in our database and we know what drugs they’re taking,” she said. “What’s leading people to choose one drug over another? And how do you care for this population who has been treated? It completely changes the natural history of the disease.”
She added: “There’s also benefit for older people with milder forms of SMA. We’re still understanding what the benefits are. You can’t bring back cells you’ve lost, but you’re slowing progression of the disease.”
The MDA, whose last such annual gathering took place 3 years ago in Orlando, Florida, is one of the world’s oldest and largest patient advocacy organizations. Best known or the long-running Jerry Lewis Telethon, the MDA has raised more than $1 billion since its establishment in 1950 toward basic research on therapies and cures for a range of neuromuscular diseases.
Dr. Wood became president and CEO of the Chicago, Illinois-based charity in November 2020. A one-time MDA grant recipient who’s been involved with the organization one way or another for more than 40 years, he has a doctorate in physiology and began his research at New York Columbia-Presbyterian Medical Center in New York City, specializing in Duchenne.
He’s known for having started the MDA’s Task Force on Genetics, which ultimately led to the discovery of the genetic defect and protein underlying Duchenne, the most common form of muscular dystrophy in children.
“It was an historic achievement when it comes to genetic medicine. It was one of the very first human genetic diseases where we were able to discover the gene without knowing the protein,” Dr. Wood said. “In those days, we knew it was a muscle disease, but we didn’t know where the primary defect was. There were theories that it was in nerve rather than muscle. Some theories even said it had to do with circulation. The methodology we used was so successful that it was also used to uncover the genetic cause of other diseases, such as cystic fibrosis.”
Yet a long-term therapy for Duchenne, let alone a cure, remains elusive—and there’s a good reason for that, Dr. Hesterlee said.
“People were hoping for results like we’ve seen with SMA, but in Duchenne, these boys often aren’t diagnosed until they’re 4 or 5. That’s about the earliest they’re going to get treated, and the results so far have not been as spectacular as everyone had hoped,” she said.
“In SMA, you’re treating nerve cells which don’t really turn over. But if you do gene therapy on an infant with Duchenne, as he grows, he’ll make a lot of muscle that will not have the therapy in it,” she explained. “So it’s not as easy as saying we need to start at birth and treat babies. You may need to treat that child as he gets older, and they develop antibodies to that virus because it’s a viral vector.”
On October 28, 2021, the MDA announced 18 grants totaling more than $1.6 million; most of them are directed toward research in Duchenne, SMA, amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth disease, and myotonic dystrophy.
“This is a new frontier. We are discovering things that no one has ever seen before,” Dr. Wood said. “An advance in one area, such as discovering the gene for Duchenne, leads very quickly to advances in other areas. The MDA started out looking at about 40 neuromuscular diseases, but now we have literally hundreds, and we’re finding out more and more about the genetics underlying various kinds of muscle weaknesses that people experience—disorders that had no name before and now we’re being able to identify them.”
Dr. Wood added: “The participation of patients in our research is absolutely essential. You can’t do genetic research without talking to the patients. They are very much a part of our progress.”
