It’s not every day a Southeast Asian monarchy bestows a $100,000 prize on a U.S. government research agency. In fact, it rarely happens. But this year is different. Thailand’s Prince Mahidol Award Foundation has chosen the National Human Genome Research Institute — a division of the National Institutes of Health (NIH) —…
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Type 1 spinal muscular atrophy (SMA) babies treated with AveXis’ gene therapy candidate AVXS-101 continue to achieve unprecedented motor milestones and do not require breathing or nutritional support, according to recent data from the company. AveXis presented updated results from Phase 3 and Phase 1 trials…
A working group led by Cure SMA, and comprising 15 experts on spinal muscular atrophy (SMA), has developed new guidelines to help clinicians and caregivers decide when to administer therapy to infants with the disease. These come as a response to the recent recommendation by the Advisory Committee on…
Spinraza (nusinersen) improves motor and respiratory function in children with spinal muscular atrophy (SMA), according to results from different trials. Biogen will present the data at the American Academy of Neurology annual meeting, taking place April 21-27 in Los Angeles. SMA is a neurodegenerative disease caused by mutations in the SMN1 gene, which provides…
Roche’s treatment candidate RG7916 increased the amount of full-length, functional SMN protein in spinal muscular atrophy (SMA) patients, according to soon-to-be-presented data from a Phase 2/3 clinical trial. The company will share its clinical results at the 2018 American Academy of Neurology (AAN) Annual Meeting, April 21-27 in Los…
Olesoxime (TRO19622) stabilizes the movement function of patients with Type 2 or Type 3 spinal muscular atrophy over the long term, an extension of a Phase 2 clinical trial shows. Roche will present the results at the 2018 annual meeting of the American Academy of…
A new genetic approach to restore the expression of the gene that causes spinal muscular atrophy (SMA) in patients’ cells holds promise to effectively and permanently treat the disease, researchers suggest. The study, “Seamless genetic conversion of SMN2 to SMN1 via CRISPR/Cpf1 and single-stranded oligodeoxynucleotides in…
A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…
Blood levels of a waste product from muscle metabolism could be used to see how spinal and bulbar muscular atrophy (SBMA) develops before symptoms appear, a Japanese study reports. The research on the waste product, creatinine, appeared in the journal Neurology. The title of the…
AveXis, which is running a series of pivotal clinical trials testing a gene therapy in babies and children with spinal muscular atrophy (SMA), announced plans to be acquired by Novartis for $8.7 billion in cash. The merger, to be completed by mid-year, met with the unanimous approval…
