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.
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…
Rich Horgan’s younger brother, Terry Horgan, is the inspiration behind Cure Rare Disease, a Boston-based nonprofit Rich established in 2017 to help scientists develop personalized therapies for people with rare diseases. Terry, 24, has Duchenne muscular dystrophy (DMD), which is the organization’s first focus. Besides Terry, three other…
Duchenne UK is partnering with Catabasis Pharmaceuticals to provide financial support for a Phase 2 clinical trial testing the experimental oral therapy edasalonexent in non-ambulatory boys and men with Duchenne muscular dystrophy (DMD). The charity is granting more than $600,000…
Montana, the fourth-largest U.S. state in area, also is one of the least-populated — with maybe half a dozen Duchenne muscular dystrophy patients among its 1.1 million inhabitants. One of them is 5-year-old Grant Heaton, the son of cattle ranchers Paul and Laura Heaton. Diagnosed with Duchenne at age…
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