
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.
Scientific Overview of FSHD
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Glossary of Scientific Terms
Losmapimod continues to show promise
Steady improvement seen in data from open-label extension study Losmapimod, a drug that is currently in a Phase 3 clinical trial for FSH muscular dystrophy, continues to slow or stop… Read More »
Epic Bio takes aim at DUX4
Updated 12-12-24 to reflect the chance in name from Epic Bio to Epicrispr Biotechnologies. Leading-edge CRISPR biotech chooses FSHD as its first disease target Epicrispr Biotechnologies, based in the San… Read More »
Roche announces Phase 2 trial in FSHD
The drug, GYM329, aims to boost muscle growth Roche, the Swiss pharmaceutical giant, has announced that it is launching an international Phase 2 clinical trial for facioscapulohumeral muscular dystrophy (FSHD)…. Read More »
Sanofi and miRecule to partner on FSHD drug program
Bringing two technologies together for a best-in-class therapy miRecule, Inc., a biotech based in Gaithersburg, Maryland, today announced a strategic collaboration and exclusive license agreement with pharmaceutical giant Sanofi to… Read More »