Risdiplam treatment has led to “clinically meaningful” improvements — whether gains or disease stabilization — in the broadest range of spinal muscular atrophy (SMA) patients, by age and disability level, yet enrolled in a clinical trial. More than one-third of those in the second part of the SUNFISH trial…
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Newborns diagnosed with spinal muscular atrophy (SMA) via newborn screening (NBS) and who carry four copies of the SMN2 gene should start treatment immediately, just as those with two or three SMN2 copies should, according to updated guidelines by a working group of SMA experts. The group…
Eighteen states are now screening newborns for spinal muscular atrophy (SMA), the most recent neuromuscular disease added to a list of serious genetic disorders that infants can be tested for shortly after birth, advocacy officers at the Muscular Dystrophy Association (MDA) said. California, the most populous state…
The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to provide feedback…
Low levels of the survival motor neuron (SMN) protein — the major root cause of spinal muscular atrophy (SMA) — may lead to defects in the “skeleton” of cells, which can affect cell growth and function, an early study in yeast suggests. In particular, one of the…
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),…
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…
