LGMD Advocates From 20+ States Press Congress as First Subtype Treatment Nears
核心洞察
Advocates living with limb-girdle muscular dystrophy (搜索) from more than 20 states held over 60 congressional meetings during The Speak Foundation (搜索)'s LGMD Day on the Hill.
The community is pressing for federal research investment, expanded Department of Defense funding access, and clearer regulatory pathways for rare-disease treatments.
Momentum is building around what could be the first FDA-approved LGMD therapy, a treatment for the LGMD 2I/R9 (搜索) subtype developed by BridgeBio.
Advocates living with limb-girdle muscular dystrophy (搜索) (LGMD) traveled from across the United States to Washington this week, bringing their lived experience directly to the lawmakers who shape rare-disease research, regulation and treatment development. During The Speak Foundation (搜索)'s LGMD Day on the Hill, advocates representing more than 20 states participated in more than 60 meetings with congressional offices.
LGMD refers to a group of rare genetic diseases that cause progressive muscle weakness and loss of function. Despite growing scientific progress, there is currently no FDA-approved treatment specifically for LGMD.
The advocacy push comes at what the Foundation describes as a pivotal moment for the field, as scientific advances bring the community closer to the possibility of its first FDA-approved treatment — for a subtype called LGMD 2I/R9 (搜索), developed by BridgeBio.
Policy Asks Focus on Research Funding and Regulatory Predictability
Advocates urged lawmakers to support federal investment in LGMD research, expand access to applicable Department of Defense research funding, and encourage clearer, more consistent regulatory pathways for rare-disease treatments.
The Foundation also supports engaging patients before trials are designed, so their perspectives can inform endpoints, eligibility criteria, visit schedules and outcomes that matter in daily life. Advocates asked Congress to back policies that recognize both the scientific challenges of studying rare diseases and the expertise patients bring to the process.
"Patients are not a renewable resource. Every blood draw, muscle biopsy, tissue donation and research visit is a significant contribution from a very small community, and every one of those contributions should move the science forward," said Kathryn Bryant Knudson, founder and CEO of The Speak Foundation (搜索), who lives with LGMD.
Knudson framed the urgency in terms of disease progression: "For people living with a progressive rare disease, time is measured differently. Research and clinical trials can take years while patients continue to lose strength and function."
Advocates also discussed with their representatives the need for greater regulatory predictability. According to the Foundation, rare-disease development programs often operate with limited funding, data and eligible patient populations. When regulatory expectations are unclear, change late in development or are applied inconsistently, promising programs can stall and investment can disappear.
Congressional Champions Recognized
As part of LGMD Day on the Hill activities, The Speak Foundation (搜索) presented its 2026 Congressional Champion for Limb-Girdle Muscular Dystrophy (搜索) Awards to Rep. John Joyce, M.D. (R-PA) and Rep. Jake Auchincloss (D-MA), both members of the House Energy and Commerce Subcommittee on Health.
Auchincloss has advanced efforts to modernize clinical development, make trials more accessible and better integrate research into patient care. Joyce, a physician, has championed policies intended to preserve incentives for continued rare-disease drug development, including the bipartisan ORPHAN Cures Act (搜索).
"Hearing directly from those living with rare diseases, such as Limb-Girdle Muscular Dystrophy (搜索), puts in perspective why this work matters," Joyce said. "Too many people living with rare diseases face few answers and even fewer treatment options, and they're counting on Congress to draw attention to the unique challenges that they face. My bipartisan ORPHAN Cures Act (搜索), which was signed into law earlier this Congress, is a step toward making sure this community isn't left behind."
Knudson credited both lawmakers with cross-party engagement. "Representatives Joyce and Auchincloss understand that medical innovation is meaningful only when it reaches the people waiting for it. We are grateful for their willingness to listen to patients and work across party lines to strengthen rare-disease research and treatment development," she said.
Scientific Momentum Builds Ahead of Summit
The advocacy effort follows the Foundation's announcement of the 2026 LGMD Scientific Summit, a virtual international meeting scheduled for July 31, 2026, convening researchers, clinicians, biotechnology innovators, regulators and patient advocates.
According to the Foundation, the Summit arrives as multiple therapeutic programs advance through clinical development, new biomarkers emerge, and innovative clinical trial approaches continue to reshape rare disease research. Scientific sessions will highlight gene therapy, regenerative medicine, biomarker qualification, natural history studies, patient-focused drug development, and collaborative strategies designed to accelerate new treatments.
Featured researchers include Douglas Sproule, MD, MSc (BridgeBio Neuromuscular); Louise Rodino-Klapac, PhD (Sarepta Therapeutics); Barry Byrne, MD, PhD (University of Florida); John Vissing, MD, DMSci (University of Copenhagen); Nicholas Johnson, MD, MSCI, FAAN (Virginia Commonwealth University); Peter Kang, MD (University of Minnesota); Tahseen Mozaffar, MD, FAAN (University of California, Irvine); Simone Spüler, MD (Charité – Universitätsmedizin Berlin); Brad Williams, PhD (Jain Foundation); and Elizabeth McNally, MD, PhD (Northwestern University).
Additional scientific and clinical presentations will be delivered by representatives from biotechnology companies and nonprofit research organizations advancing LGMD therapies, including BridgeBio Neuromuscular, Sarepta Therapeutics, AskBio, Genethon, MyoPax, Edgewise Therapeutics, Advertent Biotherapeutics, Kinea Bio, Myogenica and Cure Rare Disease. A featured panel will bring together representatives from the U.S. Food and Drug Administration (搜索) and the patient community to examine patient-centered clinical trial design, stakeholder engagement and collaborative approaches to accelerating therapeutic development for rare neuromuscular diseases.
"We have entered a transformative period for LGMD research. Scientific advances are creating opportunities that were unimaginable only a decade ago, but realizing their full potential will require continued collaboration, rigorous science, and a shared commitment to ensuring that no LGMD subtype is left behind," said Nicholas Johnson, MD, MSCI, FAAN, professor and executive vice chair in the Department of Neurology at Virginia Commonwealth University.
Douglas Sproule, MD, MSc, chief medical officer of BridgeBio Neuromuscular, thanked the individuals and families who have participated in the company's clinical studies. "It is a privilege to contribute to advancing therapies for LGMD, and that trust reinforces our commitment to rigorous science and the urgent development of meaningful new treatments," he said.
BridgeBio Neuromuscular is the Platinum Sponsor of the 2026 LGMD Scientific Summit, with AskBio as Bronze Sponsor.
Patient-Led Organization Marks Nearly Two Decades of Advocacy
Founded in 2008 as the first patient-led nonprofit dedicated to all forms of LGMD, The Speak Foundation (搜索) advances care, research, advocacy and innovation for people living with LGMD and other neuromuscular rare diseases. Its signature initiatives include the International LGMD Conference, LGMD Scientific Summit, LGMD Scientific Workshop, LGMD Day on the Hill, LGMD News Magazine and the LGMD Centers of Excellence.
"We are entering a new era for LGMD," Knudson said. "Now we need policy to keep pace with the science."