Loss of survival motor neuron (SMN) protein in muscles may contribute directly to the development of spinal muscular atrophy (SMA), in addition to its lack in motor neurons, an early study in mice suggested. Lowering SMN levels solely in muscle was seen to be enough to cause SMA-like symptoms…
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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…
Higher levels of free-fat body mass and lean body mass are associated with better motor function in children with spinal muscular atrophy (SMA) types 1 and 2, a study from researchers in Italy found. The findings highlight the importance of monitoring SMA patients’ nutrition, and suggest that these…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
Preclinical and clinical data on SRK-015 continue to support the therapy’s potential to treat spinal muscular atrophy (SMA), developer Scholar Rock said in a press release. Recruitment for a Phase 2 clinical trial evaluating the efficacy and safety of SRK-015 in children and adults with SMA…
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…
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…
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…
