My First Time Attending the LA Abilities Expo

A few weeks ago, I attended the Los Angeles Abilities Expo for the first time. Because I am now a moderator for the Muscular Dystrophy News Forums, I thought it would be a great opportunity to inspire some topic discussions. My mom attended a few Abilities Expos in the…

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…

I received my mitochondrial myopathy diagnosis 13 years ago. I became involved with the Muscular Dystrophy Association (MDA) soon afterward. The organization is known for its Labor Day telethons previously hosted by the late actor and comedian Jerry Lewis. Each year, the telethon featured performances by…

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…

Teachers must educate classes full of rambunctious, bored kids while trying to keep them engaged and quiet. Having a student with disabilities can add a whole new layer of complications to a teacher’s strenuous job.  My disease caused many developmental delays, including an inability to walk until…

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…