A gene called synaptotagmin 13 (SYT13) can prolong the lifespan and prevent the destruction of motor neurons in mouse models of amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), according to a study. The study, “Synaptotagmin 13 is neuroprotective across motor neuron diseases,”…
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Meeting its goal in less than half the time, the Clinic for Special Children (CSC) in Pennsylvania Dutch Country has completed its program to identify spinal muscular atrophy (SMA) carriers among Amish and Mennonite communities across 15 states. The nonprofit CSC conducted 2,177 tests in 15 months,…
Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those looking to begin the complex process in its Feb. 20 webinar. William Whitman,…
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…
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…
