For Neuromuscular Disease Community, an Era of Opportunities and Threats

Between gene editing capabilities, artificial intelligence, platform technology to speed drug delivery, and the talent and dedication of those working in the neuromuscular disease field, “these are tremendous opportunities—there’s never been a better time—but we have enormous headwinds at the same time,” Robert Califf, MD, former FDA commissioner, said in his keynote address to kick off the 2025 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference in Dallas, Texas.

Califf, now an instructor of medicine at Duke University, did not shy away from calling out the trends he sees as threats to care delivery and research: The US has a “uniquely inadequate” primary care system, a public health system in the midst of dismantlement, and a clinician workforce that is feeling pressure to practice medicine as a business rather than a profession.

He predicted that the health care delivery system is about to undergo a tremendous shock, due to workforce reductions and potential budget cuts to biomedical research and regulatory agencies.¹ But with this shock will come opportunities to continue the progress that has been made, including in the field of neuromuscular diseases, where Califf’s tenure leading the FDA in 2016-2017 and 2022-2025 overlapped with significant advancements in understanding these diseases, from their etiology to approved therapies, and he does not expect this progress to stop.

“For many rare diseases, if there’s just enough capital and interested scientists, an effective therapy could be developed, and so it’s a matter of putting these pieces together on the science front,” Califf said.

The availability of life-extending therapies for neuromuscular conditions like Pompe disease² is now leading to a new set of needs: They’ve created a whole generation of adults who didn’t exist before, but whose complex medical problems are undefined and require close attention from multidisciplinary care teams. Califf called for the development of systems in which people with these conditions can have their data collected and analyzed in real time, and noted that artificial intelligence holds the opportunity to free up clinicians to deliver care rather than taking notes. By sharing learnings across silos and harnessing the power of numbers to get the right patients in the right trials at the right time, Califf is confident that the momentum can be kept up through advocacy efforts like those organized by the MDA and its diverse umbrella of members.

“It’s people like you who can really make a difference, so you’ve got to get out there and let your voices be heard,” he told the audience.

The Future of the Field

Next, a panel of neuromuscular disease experts convened to react to Califf’s talk and provide their input on the future of the field. They agreed that although the potential of funding cuts presents a huge concern, there are also reasons for hope. For instance, Barry Byrne, MD, PhD, professor of pediatrics at the University of Florida, pointed to new study designs, including within-subject dose modifications that are now possible thanks to novel technology, while Timothy Miller, MD, vice president of enterprise science and innovation at Thermo Fisher Scientific, called for taking advantage of platform technology opportunities to reduce costs in the development and manufacturing chains.

“The technology does give a tremendous opportunity for us to get new insights and better decision-making,” said David Allison, CEO of TreatNMD.

The panelists agreed on the importance of taking a long view of progress—especially relevant given the MDA conference’s focus on looking back and looking forward as it celebrates its 75th anniversary this year.

“Think what’s happened in the last 75 years, and realize that progress is not linear but has inflection points,” said Elizabeth M. McNally, MD, PhD, professor of genetic medicine at Northwestern University. “When people look back on this era…they will recognize that this is an era of science and technology, and that that is our future; that is what you should invest in, because that is what makes everybody’s lives better.”

References

1. Grossi G. Health policy in flux: Trump administration updates. AJMC^®. Updated March 4, 2025. Accessed March 17, 2025. https://www.ajmc.com/view/health-policy-in-flux-trump-administration-updates

2. Gavidia M. Novel enzyme replacement therapy gains FDA approval in Pompe disease. AJMC. August 7, 2021. Accessed March 17, 2025. https://www.ajmc.com/view/novel-enzyme-replacement-therapy-gains-fda-approval-in-pompe-disease