News

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…

Plasticity Brain Centers has become an authorized care provider for children and young adults with muscular dystrophy and other rare disorders who receive Gardiner Scholarships from the State of Florida. In addition to those with rare diseases, the scholarships allow youngsters with developmental disorders and other conditions to attend a private school or…

A Phase 2 clinical trial of ATL1102, Antisense Therapeutics’ investigational therapy for Duchenne muscular dystrophy (DMD), recently received authorization to proceed from the Royal Children’s Hospital (RCH), Melbourne Human Research Ethics Committee. ATL1102 inhibits the protein CD49d, which is required for the normal function of the VLA-4 (very late…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

A new interim analysis of the PhaseOut DMD clinical trial shows that ezutromid (SMT C1100) significantly decreased muscle inflammation in patients with Duchenne muscular dystrophy (DMD), Summit Therapeutics announced. Ezutromid is called a utrophin modulator because it is able to trigger utrophin production in people who lack dystrophin,…