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…
Being wheelchair-bound and still stylish can be the ultimate challenge. It’s hard to find that balance between style and comfort, especially as a woman. The average, able-bodied female millennial has enough trouble going into a store and finding a garment that not only looks good but also makes…
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…
I’ve had bad posture my entire life. Growing up, I didn’t know why I always slouched so much. I just knew that I was comfortable that way. Years later, I realized that it’s because of the muscle weakness caused by mitochondrial myopathy. Last year was the first…
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…
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