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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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. -
FSH Society Atlanta Meeting: Considering clinical trials in muscle disease: An industry perspetive
Recorded July 1, 2012. By Fady Malik, MD PhD, Cytokinetics, Inc. -
FSH Society Atlanta Meeting: Panel Discussion on FSHD Research
Recorded June 30, 2012.
Scientific Overview of FSHD
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Glossary of Scientific Terms
UCLA Health – Southern California’s Frontlines of FSHD Research
Nestled into a basement in an outpatient building at UCLA Health’s Westwood hospitals is UCLA Neurology, home to ground-breaking FSHD Research. UCLA Health already ranks as the #1 hospital in California, and 4th nationally according to the U.S. News & World Report’s 2020 rankings, but it is also part of an elite network of… Read More »
Fulcrum’s interim findings from ReDUX4 trial are “encouraging”
This week, Fulcrum Therapeutics announced results from an interim analysis of data collected from its Phase 2 ReDUX4 trial, which is testing the effect of a drug called losmapimod in individuals with facioscapulohumeral muscular dystrophy (FSHD). The drug, which is taken as a pill twice a day, is intended to reduce the expression of a… Read More »
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 »