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.
The past, present, and future of FSHD research, with George Padberg, MD PhDFrom the FSHD Society's 2020 International Research Congress, held virtually on June 25-26.. Dr. Padberg, a giant in the field of FSH muscular dystrophy research, discusses clinical aspects of FSHD have been underinvestigated and suggests directions for future research. For more information, visit fshdsociety.org
siRNA therapy for FSH muscular dystrophyFrom the 2020 FSHD Connect Classroom conference. Dr. Anthony Saleh of miRecule describes the cause of FSH muscular dystrophy and research on siRNAs as a potential therapy. For more information, visit www.fshdsociety.org.
Gene therapy for FSHD, by Scott Harper, PhDFrom the 2020 FSHD Connect Classroom conference. Dr. Scott Harper of Nationwide Children's Hospital gives a progress report on the development of gene therapies for FSH muscular dystrophy. For more information, visit www.fshdsociety.org.
Scientific Overview of FSHD
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Glossary of Scientific Terms
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 »
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 »
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 »
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 »