Six unusual cases of children with spinal muscular atrophy (SMA) caused by sequence variants, rather than the more common genetic deletion, were described in a recent report. SMA is caused by mutations in the SMN1 gene. Everyone inherits two copies of the gene, one from each parent. SMA…

A new computational tool developed by Pacific Biosciences can identify genetic mutations that cause spinal muscular atrophy (SMA) with high accuracy and could help identify “silent carriers” who aren’t detected by current tests, a new study reports. The study, “Comprehensive SMN1 and SMN2 profiling for…

Nutrition has always been a challenge for my daughter, Ella. And, in turn, it is a challenge for my wife and me. Due to Ella’s disease, she has an increased amount of difficulty digesting long-chain fats (meats, cheeses, etc.) and she also has a hard time…

SRK-015 has received orphan drug status designation by the U.S. Food and Drug Administration (FDA) to treat muscle atrophy in patients with spinal muscular atrophy (SMA). SRK-105 is Scholar Rock’s lead product candidate, intended to improve muscle strength…

High doses of a modified, non-infectious virus that is being used in gene therapy — including one now in clinical trials in spinal muscular atrophy patients — cause life-threatening toxicity in monkeys and piglets, researchers at the University of Pennsylvania Perelman School of Medicine report. Their study, “Severe toxicity…

We know dealing with spinal muscular atrophy (SMA) sometimes feels like an uphill battle, both for the patients and the caregivers. You feel like you’re not doing enough or as if the disease is taking up all your time and attention. To help you on your journey, we’ve gathered a few…

The patent application for gene therapy candidate INT41, developed by Vybion for the treatment of Huntington’s disease, spinal muscular atrophy (SMA), and other neurodegenerative diseases, was granted Track One status from the U.S. Patent and Trademark Office (USPTO). The patent application covers the treatment’s composition and methods of use.

https://www.youtube.com/watch?v=qSdhenKtI1k Being diagnosed with a devastating disease like spinal muscular atrophy (SMA) can seem unbearable. For some, the diagnosis strengthens their determination to work even harder toward accomplishing goals. What is SMA? Here’s an introduction to this disease. When she was only five months old, Alyssa Silva was diagnosed…

Spinal muscular atrophy (SMA) is a genetic disease that affects mostly children. Sadly, some forms of SMA can lead to death. The severe neuromuscular disease causes the inability to participate in daily life functions like walking, eating, or even breathing. Read more about spinal muscular atrophy here. In this video…

Johns Hopkins University researcher Dr. Charlotte Sumner, M.D., has been granted a Cure SMA award of $140,000 for her project, “Assessing the reversibility of proximal axon abnormalities in SMA mice.” Photo Credit: Cure SMA Sumner is a specialized adult neurologist with training in neuromuscular disease and spinal…