The Institute for Gene Therapies (IGT) has launched, with the aim of maximizing the potential of gene therapies in genetic disorders such as spinal muscular atrophy (SMA). Comprised of industry leaders, scientists, and patient advocates, the IGT’s overarching goal is to set the foundation for a modernized…
Results from a clinical trial of risdiplam in a broad range of people with spinal muscular atrophy were a highlight of SMA Europe’s 2020 conference, a board member of that SMA umbrella patient advocacy group said…
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…
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),…
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…
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…
A panel of experts has developed a new treatment algorithm for infants diagnosed with spinal muscular atrophy (SMA) via newborn screening, a study reports. Such newborn screens are vital because outcomes for SMA improve dramatically if therapy begins within the first few days of life, the…