MDA Reflects on 75 Years of Research and the Precarious Times Ahead

Neuromuscular disease researchers, clinicians, and advocates gathered to celebrate 75 years of progress at the 2025 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference in Dallas, Texas, but they also noted that these gains could be reversed if cuts to Medicaid and research funding proceed.

Before the keynote address by former FDA Commissioner Robert Califf, MD,¹ the MDA Conference attendees heard from Sharon Hesterlee, PhD, chief research officer at MDA, and Paul Melmeyer, MPP, executive vice president of public policy and advocacy at MDA. Hesterlee recapped the research strides that have been made in the 75 years since MDA was founded—which were also displayed in the windows of the hallway leading to the ballroom—and Melmeyer followed with a look at the year ahead in the association’s public policy and advocacy efforts.

Research strides were displayed in the windows of the hallway leading to the ballroom. | Image Credit: Christina Mattina

75 Years of Research Progress

According to Hesterlee, when MDA was in its infancy in the 1950s, there was some awareness of muscular dystrophy as a set of diseases that cause muscle weakness and run in families, but there was little understanding of the underlying causes. By 1986, MDA-funded research had discovered the dystrophin gene that causes Duchenne muscular dystrophy (DMD), but as the largest gene in the genome, it was too large to fit in an adeno-associated virus vector, and the first gene therapy trial in DMD wouldn’t begin until 2006.

Meanwhile, trials commenced for gene therapies to treat limb girdle muscular dystrophy in 1999, and nusinersen was approved for spinal muscular atrophy (SMA) in 2016, which Hesterlee described as “the point at which we realized that this disease that was completely intractable—that was absolutely terrible, that was the leading genetic cause of death in infants—was tractable, that you could actually change the expression of the gene and get a good outcome.” Now, there are 4 approved drugs for DMD, and tofersen has been approved to treat amyotrophic lateral sclerosis.

It's not just drugs that MDA is active in funding: Hesterlee also mentioned the creation of the MOVR Data Hub in 2013, which aims to aggregate longitudinal clinical data across neuromuscular diseases, and the Kickstart Program, which will encourage research in ultrarare disease states.

“We now have 28 drugs approved in neuromuscular disease, and building this entire ecosystem is so important to maintain,” Hesterlee said. “The point is research funding works. You see the pipeline, you see where these things come from, and that’s in danger with the cuts that have been impacting the NIH,” referring to cuts to National Institutes of Health funding that have been temporarily blocked by a federal judge.² “We’re going to lose a generation of scientists right now if we can’t step in and help,” she warned.

A Busy Year Ahead for Advocacy

Melmeyer’s talk also covered some significant strides but warned of progress that could be lost without effective advocacy. For instance, in the past year, the neuromuscular disease community pulled together to achieve accessible air travel reforms, updates to disability rights legislation, and 100% of states now screening newborns for SMA. Looking at the year ahead, the MDA is focused on bills to reauthorize Pediatric Rare Disease Priority Review Voucher program, streamline Medicaid coverage across state lines, cover genetic counselors in Medicare, and expand newborn screening for Pompe disease and DMD.

However, there are significant concerns on the horizon, including lawsuits invalidating progress in disability protections, dismantling of federal offices such as the Department of Education, and threats to disability inclusion efforts, said Melmeyer. Proposed cuts to Medicaid are of particular concern,³ given that 45% of those with neuromuscular diseases are covered by Medicaid.

“If [the] federal government were to drastically cut the amount of funding that they give to states to cover the Medicaid programs, we know that our community will lose access to care,” Melmeyer said. “We know that they’ll lose access to services. We know that they’ll lose access to the clinics, the treatments, to community-based services, and more.” He called on attendees to visit MDA’s Medicaid advocacy page and make their voices heard.

Federal Policy on Speakers’ Minds

The unpredictable federal policy landscape was brought up several times throughout the MDA Conference sessions. In a session about securing gene therapy coverage,⁴ Chamindra Laverty, MD, neurologist at UC San Diego Health, said that a government-funded national registry for neuromuscular diseases is the ideal solution to collate the data that payers will require for broader coverage—but it’s a solution that is likely not forthcoming: “I’m not sure how valid it’s going to be moving forward, but that is the only way that I can think of, because otherwise it’s difficult for a foundation or a nonprofit year after year to fund such a thing.”

References

1. Mattina C. For neuromuscular disease community, an era of opportunities and threats. AJMC^®. March 17, 2025. Accessed March 24, 2025. https://www.ajmc.com/view/for-neuromuscular-disease-community-an-era-of-opportunities-and-threats

2. Montague Z. Judge extends block on N.I.H. medical research cuts. New York Times. February 21, 2025. Accessed March 24, 2025. https://www.nytimes.com/2025/02/21/us/politics/judge-nih-medical-research-cuts-universities.html

3. Klein HE. House passes budget resolution cutting billions from Medicaid funding. AJMC. February 25, 2025. Accessed March 24, 2025. https://www.ajmc.com/view/house-passes-budget-resolution-cutting-billions-from-medicaid-funding

4. Mattina C. Neurologists share tips for securing patient access to gene therapies. AJMC. March 19, 2025. Accessed March 24, 2025. https://www.ajmc.com/view/neurologists-share-tips-for-securing-patient-access-to-gene-therapies