Fulcrum Therapeutics announced that its Phase 2b trial assessing the safety and efficacy of losmapimod, an investigational oral treatment for facioscapulohumeral muscular dystrophy (FSHD), is fully enrolled. The trial (NCT04003974), called ReDUX4, started recruiting patients at clinical sites in the U.S., Canada, and Europe last year. It is…
In the coming days, a great deal of focus will be placed on Rare Disease Day, which is Feb. 29. And for good reason. Approximately 7,000 rare diseases affect up to 30 million Americans. That’s almost one in 10 people in this country. The National Institutes…
Researchers have improved a gene editing technique that may more efficiently correct DMD gene mutations in people with Duchenne muscular dystrophy (DMD), restore the normal function of the dystrophin protein, and improve muscle function, a study in…
Translarna (ataluren) significantly improves physical fitness in people with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), a study examining multiple endpoints across two trials shows. The study used a statistical strategy for analyzing multiple trial endpoints together, a tactic that could improve the interpretation…
Many years ago, I wore a green wristband adorned with the words “energy for life.” This phrase helped me to promote awareness about my disease, mitochondrial myopathy. I wore the wristband every day until one day it disappeared. I scoured my room looking for my beloved accessory, but came…
Treatment with adenylosuccinic acid (ASA) improves muscle integrity and reduces cellular damage in a mouse model of Duchenne muscular dystrophy (DMD), a study has found, suggesting it could be a viable therapy for patients with the condition. In these animals, ASA increased the amount of mitochondria (the energy…
Four grassroots organizations are collaboratively funding a $200,000 grant to a University of Missouri School of Medicine researcher to develop next-generation gene therapy vectors for Duchenne muscular dystrophy (DMD). The foundations Ryan’s Quest, Michael’s Cause, Pietro’s Fight, and Powers Promise are awarding the…
Treatment with chloroquine increased the levels and restored the activity of Muscleblind-like RNA-binding proteins, improving muscle function and strength in animal models of myotonic dystrophy type 1, a study has found. The study, “Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in…
PTC Therapeutics has launched its sixth annual global grant program for patient advocacy organizations that seek to develop innovative projects for the Duchenne muscular dystrophy (DMD) community. Currently focused on DMD, the Strategies to Realize Innovation, Vision and Empowerment (STRIVE) program supports nonprofits that seek to create…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
Get regular updates to your inbox.