The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to losmapimod, an investigational oral therapy for people with facioscapulohumeral muscular dystrophy (FSHD). This designation offers Fulcrum Therapeutics financial support to develop this treatment, as well as a waiver from the FDA’s fees and…
Kevin Schaefer hadn’t been in an airport since he was 4 years old, so he had been looking forward to flying from his home in Cary, North Carolina, to Anaheim, California, in June for the 2019 Cure SMA Conference. As it turned out, his experience didn’t go as expected.
As we finish the first month of 2020, I keep thinking about how time flies as I get older. There are many theories for this phenomenon. For me, it’s all in the math. When I was 10, a year was 10 percent of the time I’d lived on this…
Altering connexin 43 (Cx43) — a protein involved in heart function — in cardiac muscle cells protected against heart disease in a mouse model of Duchenne muscular dystrophy (DMD), a study found. These results suggest targeting Cx43 may prevent heart disease in people with DMD. The study, “…
GeneDx has chosen Bionano Genomics’ technology, called Saphyr System, to aid in developing tests to detect mutations in genes that are associated with different forms of muscular dystrophy and other disorders. Saphyr is a whole-genome imaging technology that uses advanced optics combined with mathematical…
Parent Project Muscular Dystrophy (PPMD) will use PerkinElmer‘s recently federally authorized test to aid newborn screening for Duchenne muscular dystrophy (DMD) in a newly launched pilot program in New York state. Results from the two-year Newborn Screening Pilot for Duchenne Muscular Dystrophy, launched in collaboration with consortia…
Note: This story was updated Dec. 17, 2020, to note that preclinical studies testing this form of gene therapy were conducted in animals that naturally develop DMD, not genetically engineered animals. Genethon and Sarepta Therapeutics have extended their original agreement to develop GNT0004, a potential …
AMO Pharma has begun enrollment for a Phase 2/3 trial that will assess the experimental oral therapy AMO-02 (tideglusib) in children and adolescents with congenital myotonic dystrophy type 1 (DM1). The randomized, double-blind trial (NCT03692312) is intended to support regulatory approval of AMO-02 for congenital…
As a kid, I found it difficult to bond with other children with muscular dystrophy (MD). As a young teen, I often compared myself to others — including those living with MD. The invisibility of my disease often made me feel like an outcast. The rarity of my type of…
The other day, I was sitting in Haute Cakes Caffe chowing down on a carnitas breakfast burrito, when an older woman sitting next to me said something that took me by surprise. “You have a really great outlook,” she said, as I motored up to grab a to-go box…
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