News

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

Edasalonexent, a potential oral therapy for Duchenne muscular dystrophy (DMD), can prevent the development of heart disease and help to preserve bone health, according to data from two studies in mouse models of DMD. Catabasis Pharmaceuticals’ investigational treatment was also well-tolerated when given for up to…

Santhera Pharmaceuticals has decided to stop SIDEROS, its Phase 3 trial assessing the effectiveness of Puldysa (idebenone) at delaying respiratory decline in patients with Duchenne muscular dystrophy (DMD) on a stable glucocorticoid dose. An interim data analysis of the study (NCT02814019), which was fully enrolled, determined that…

The U.S. Food and Drug Administration (FDA) has granted fast track designation to PF-06939926, Pfizer’s investigational gene therapy for Duchenne muscular dystrophy (DMD). This designation is given to treatments that show considerable potential in addressing serious conditions for which available treatments fall short. It is…

Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…

The U.S. Food and Drug Administration (FDA) has lifted its clinical hold on the Phase 1/2 trial testing SGT-001, Solid Biosciences’ investigational gene therapy for people with Duchenne muscular dystrophy (DMD), the company announced. Updated safety and effectiveness data for all patients dosed to date,…

A single dose of SRP-9001, Sarepta Therapeutics’ investigational gene therapy for  Duchenne muscular dystrophy (DMD), continues to be safe and to improve motor function in four boys treated two years ago, according to data from an ongoing Phase 1/2 trial. Updated results from Study-101 (…

Italfarmaco has now completed recruitment — delayed in the spring due to the COVID-19 pandemic — of boys with Duchenne muscular dystrophy (DMD) for its ongoing Phase 3 trial of givinostat, according to a top company officer. In another milestone, Givinostat has “just received” rare pediatric disease…

It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism.   “The hardest…

The experimental therapy vamorolone can improve motor function significantly in boys with Duchenne muscular dystrophy (DMD), without stunting their growth and with fewer side effects compared to standard corticosteroids, according to 18-month data from a Phase 2 trial and its extension study. Findings were reported in the study, “…