News

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term impact…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

To raise awareness and money to back efforts that help those living with muscular dystrophy (MD), the Muscular Dystrophy Association (MDA) has launched its venerable #MDAShamrocks campaign. More than 20,000 businesses throughout the nation are expected to participate in this, the 37th annual St. Patrick’s Day-themed program to…

CureDuchenne, one of the nation’s leading Duchenne muscular dystrophy (DMD) charities, is sponsoring 30 events across the U.S. this year to educate patients and their families about all aspects of the neuromuscular disease. “Our motto is ‘leave no boy behind,’ so we want to make sure we have a…

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…