Gene therapies — after a tragedy kicked them back to the lab some two decades ago — are beginning to come into their own, making progress in gene-targeted and combination treatments for neuromuscular diseases that once were unimaginable. Nowhere is this more evident than in spinal muscular atrophy (SMA),…
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With about $18 million expected to be awarded in 2020 for grants supporting research across neuromuscular diseases, the Muscular Dystrophy Association (MDA) continues to be a leader in efforts to better treat and otherwise ease life for those touched by spinal muscular atrophy (SMA) as well as muscular…
Risdiplam safely and significantly improved or stabilized motor function in children and young adults with spinal muscular atrophy (SMA) types 2 and 3, one-year data from the second part of the SUNFISH trial show. As anticipated by risdiplam’s developers, these benefits were more pronounced in younger patients. “Risdiplam is the…
The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.
Muscle-specific microRNAs, small DNA-related molecules detectable in blood tests, may be biomarkers of disease progression and response to therapy in children with spinal muscular atrophy (SMA), a small study suggests. The levels of several muscle microRNAs (miRNAs) in children with SMA type 2 and type 3…
R-Roscovitine, a small molecule that promotes calcium entry in nerve cells, restored neuron-muscle communication, reduced the loss of motor neurons, and prolonged the survival of mice with spinal muscular atrophy (SMA), a study reports. The researchers said this molecule could be used to support other SMA…
Because babies with type 1 spinal muscular atrophy (SMA) develop serious swallowing problems at different ages, the decision to switch from oral to tube feeding should be tailored for each child, researchers in South Korea suggest. Their study, “Trajectory of change in the swallowing status in…
Kevin Schaefer hadn’t been in an airport since he was 4 years old, so he had been looking forward to flying from his home in Cary, North Carolina, to Anaheim, California, in June for the 2019 Cure SMA Conference. As it turned out, his experience didn’t go as expected.
Researchers in China report having developed a method that was fast, effective, and reliable in newborn screening (NBS) for spinal muscular atrophy (SMA). The results, “Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry,” were published in the journal Frontiers in…
Genentech announced, without providing details, positive topline results from the pivotal second part of its FIREFISH clinical trial of risdiplam, now before the U.S. Food and Drug Administration for approval. The company said in its release that risdiplam demonstrated statistically significant and medically meaningful motor milestone improvement…
