To crack the code of FSHD, patients are absolutely essential
All of the breakthroughs—the discovery of the genetic causes, understanding why some patients vary so greatly in the severity of their symptoms, teasing out the biochemical pathways that could point to future treatments—were made because patients stepped up to the plate.
Too often, we hear patients say they’ll volunteer when there’s a treatment. But we will never get to a treatment unless patients participate in fundamental research now. FSHD is uniquely human, so no laboratory mouse can ever fully model the disease. The genetic “package” that causes FSHD is found only in people. We owe an enormous debt to the patients who give DNA samples. Who submit to long interviews and exhausting physical tests. Allow a surgeon to cut out a small muscle sample. Who fight claustrophobia to lie in the narrow bore of an MRI machine.
Equally important are patients’ family members, both affected and unaffected, who provide the best experimental controls because of their shared genetic and environmental backgrounds. A parent or sibling who has very mild symptoms may hold the key to understanding the factors that protect against the full-blown development of FSHD symptoms in a more severely affected family member.
We are more hopeful today than ever before that a treatment is within sight. We cannot guarantee when that treatment will arrive, but here’s one thing we guarantee: If you volunteer for research, your participation will without question help move us a step closer to that day.
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Accelerating the path to developing FSHD therapies
Our webinar presenter is Molly White, Vice President, Medical Communications & Advocacy at Dyne Therapeutics. Molly brings a unique perspective on the impact of the FSHD community’s role in therapy development. She previously served as chief executive officer of Myotonic, an organization dedicated to advancing research and enhancing the quality of life of people living with myotonic dystrophy. For more information, visit www.fshdsociety.org -
FSHD Society webinar - COVID-19 survey report
In the spring of 2020, the FSHD Society and FSHD UK distributed a survey from the University of Rochester to assess how the neuromuscular patient community was responding to the social distancing policies imposed by the COVID-19 pandemic. We are so grateful to the hundreds of individuals who responded. The key investigators, Leann Lewis and Katy Eichinger, presented their findings in this webinar. We’re so pleased to be able to report back data so quickly to our community. There will be Q&A and discussion of the insights gained that could help inform how people are coping with the challenges of these times. For more information, visis www.fshdsociety.org. -
FSH Society Atlanta Meeting: Advances in clinical research and translational research
Recorded July 1, 2012. With Kathryn Wagner, M.D., Ph.D.The Center for Genetic Muscle Disorders, Kennedy Krieger Institute, and Johns Hopkins School of Medicine, Baltimore, Maryland.
Scientific Overview of FSHD
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Glossary of Scientific Terms
FSHD Clinical Trial Research Network expands to four new sites
The FSHD Society announced today that it has awarded $300,000 a year to expand the Facioscapulohumeral Muscular Dystrophy Clinical Trial Research Network (FSHD CTRN), with consideration of follow-on funding of $300,000 a year in 2021 and 2022. The network is a consortium of academic research centers in the United States and Europe with expertise in FSHD clinical… Read More »
ReDUX4 clinical trial update
In this video, Diego Cadavid, MD, Senior Vice President, Clinical Development, at Fulcrum Therapeutics provides an update on ReDUX4, the Phase 2b clinical trial currently underway testing the safety and efficacy of losmapimod to treat facioscapulohumeral muscular dystrophy (FSHD). The company started recruiting volunteers for the trial in August of 2019 and completed enrollment in… Read More »
27th Annual FSHD International Research Congress Goes Virtual
The FSHD Society announced the opening today of its 27th annual International Research Congress (IRC), which is being conducted entirely online for the first time in the organization’s history. The conference is widely seen as the premier global platform for the discussion and dissemination of state-of-the-art research on facioscapulohumeral muscular dystrophy (FSHD). A record 210 researchers,… Read More »
Losmapimod as potential COVID-19 treatment?
Our science team has often discussed the potential of therapies for facioscapulohumeral muscular dystrophy to address other conditions such as cancer, based on the biology of the disease. Now we have learned that losmapimod, currently in a Phase 2b clinical trial for FSHD, will be investigated as a treatment for COVID-19. According to a press… Read More »