News

All three children with limb girdle muscular dystrophy type 2E (LGMD2E) treated with the investigational gene therapy MYO-101 in a clinical trial showed marked production of beta-sarcoglycan, the missing protein in the disease, according to Sarepta Therapeutics. LGMD2E, also known as beta-sarcoglycanopathy, is caused by mutations in the SGCB gene,…

Long-term treatment with Raxone (idebenone) slows down loss of respiratory function in Duchenne muscular dystrophy (DMD) patients for up to six years, according to recent results from Santhera Pharmaceuticals’ SYROS trial. The company is recruiting participants for the SIDEROS-E Phase 3 study (NCT03603288). It aims to assess the long-term safety…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

With the goal of identifying patients with Duchenne muscular dystrophy (DMD) in the Middle East and North Africa, genetic diagnostics company Centogene has announced a year-long strategic collaboration with Sarepta Therapeutics. The agreement calls for patients who are multiplex litigation-dependent probe amplification (MLPA) negative to undergo…

The investigational treatment edasalonexent was well-tolerated, led to no safety issues, and blocked a crucial muscle disease protein in boys with Duchenne muscular dystrophy (DMD), according to part 1 results of a Phase 1/2 trial. The study, “Phase 1 Study of Edasalonexent (CAT-1004), an Oral…

A new hand-held device makes monitoring pulmonary function in adolescents with Duchenne muscular dystrophy (DMD) more convenient and may improve disease management, a study shows. The study, “Home-Based Monitoring of Pulmonary Function in Patients with Duchenne Muscular Dystrophy,” was published in the Journal of Neuromuscular…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

Treatment with investigational edasalonexent enabled normal growth, preserved muscle function, and slowed disease progression in boys with Duchenne muscular dystrophy (DMD), according to results of a Phase 1/2 trial and its ongoing extension study. Additionally, a Phase 3 trial called PolarisDMD (NCT03703882) also investigating edasalonexent in boys with DMD…

Citing a persistent need for new treatments and patient support, the Muscular Dystrophy Association (MDA) has updated its Duchenne muscular dystrophy (DMD) fact sheet. In related news, two top issues identified in a landmark MDA-funded survey of neuromuscular disease families were access to quality care along with a greater…