Risdiplam continues to sustain high levels of the SMN protein and improve motor function in children and young adults with spinal muscular atrophy (SMA) types 2 and 3, two-year data from the first part of the SUNFISH trial show. It also safely and effectively raises SMN levels in patients previously treated…

A readiness program to help clinical trial sites prepare to run spinal muscular atrophy (SMA) studies has been established by Cure SMA in collaboration with the pharmaceutical industry, other patient advocacy groups, and research institutes. The program is described in a position statement, “The SMA Clinical…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

The frequency with which spinal muscular atrophy (SMA) is found in newborns may be lower than previously thought, according to one-year data from an SMA screening program in the state of New York. Based on expected disease frequency, the program anticipated that 20 to 38 of the more than 225,000…

Continuing treatment for spinal muscular atrophy (SMA) is essential and should not be considered elective, or be delayed or interrupted if possible, despite the healthcare limitations imposed by the COVID-19 pandemic.   These are the main recommendations given unanimously by a panel…

The U.S. Food and Drug Administration (FDA) asked for the SUNFISH clinical trial’s top-line data that necessitated a delay in its review of whether risdiplam could be an oral treatment for spinal muscular atrophy (SMA), and for good reason — these pivotal results could lead to the treatment being available…

Finding biomarkers that capture neuroinflammation is critical to the continued use of gene therapies carried on an adeno-associated virus (AAV) as a transport agent, according to a recent review. AAV-based gene therapies are of growing importance to  treating neurodegenerative and neuromuscular disorders like spinal muscular atrophy (SMA).

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,…

With Rare Disease Day coming up on Feb. 29, one question in particular has been circling the SMA community: “What makes you rare?” Anyone affected by a rare disease is entitled to their opinion. Likewise, everyone is uniquely qualified to comment on the concept of rarity. However, I struggle…

The first Rare Disease Day was celebrated in Europe in 2008. The United States participated the following year, and by 2019 more than 100 countries had joined in to highlight rare diseases. The special acknowledgment falls annually on the last day of February. This year, that’s the…