News

AMO Pharma’s myotonic dystrophy treatment improved patients’ cognition, fatigue and  ability to perform daily tasks, a Phase 2 clinical trial showed. The therapy, AMO-02 (tideglusib), also improved patients’ autism symptoms. In addition, it was safe and patients tolerated it well. Dr. Joseph Horrigan, the company’s chief medical officer, presented the findings at…

Scientists are increasingly looking at gene therapies as potential treatments for Duchenne muscular dystrophy. But there are a lot of ways to do them, and an expert in the field shed light on the subject in a webinar arranged by Parent Project Muscular Dystrophy (PPMD). Dr. Timothy Cripe discussed the…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

The U.S. Food and Drug Administration has placed a clinical hold on a Phase 1/2 trial testing SGT-001, a dystrophin gene therapy intended to treat Duchenne muscular dystrophy (DMD), after the first patient dosed was hospitalized with a possibly serious reaction. Solid Biosciences, the therapy’s developer, announced that within days…

Sarepta Therapeutics will seek accelerated U.S. approval of a treatment for a subset of Duchenne muscular dystrophy (DMD) patients. Golodirsen (SRP-4053) is for patients whose disease stems from a deleted part of the DMD gene known as exon 53. Sarepta met with U.S. Food and Drug Administration officials in…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

Research supporting prenatal diagnosis of Duchenne muscular dystrophy (DMD) has earned Vietnamese scientist Tran Van Khanh a Kovalevskaya Award. Khanh has focused her work on studying gene therapy and prenatal diagnosis of genetic disorders. Germany’s Alexander von Humboldt Foundation makes the annual Kovalevskaya Awards to women scientists in…

Summit Therapeutics has opened enrollment for an additional group in its ongoing PhaseOut DMD trial to include patients with Duchenne muscular dystrophy (DMD) who participated in the previous Phase 1 clinical trials for the investigational therapy ezutromid (SMT C1100) but who, at the time of enrollment, failed to meet the enrollment…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…