SPINAL MUSCULAR ATROPHY

This study tested a one-time gene therapy called OAV101 in 27 children aged 2 to 18 with spinal muscular atrophy (SMA) who had stopped taking other SMA medications. The main goals were to check safety and see if the treatment helped improve muscle strength and movement. The thera…

This study tested a new medicine called apitegromab in 188 children (ages 2–21) with later-onset spinal muscular atrophy (SMA types 2 and 3) who were already taking standard treatments. The goal was to see if adding apitegromab could further improve muscle function and movement. …

This study tested a single dose of a gene therapy called AVXS-101 in 30 infants under 6 weeks old who were genetically diagnosed with spinal muscular atrophy (SMA) but not yet showing symptoms. The goal was to see if the treatment could help them reach motor milestones like sitti…

This study tested a drug called risdiplam in 174 adults and children with spinal muscular atrophy (SMA), a genetic disease that weakens muscles. The goal was to see if the drug is safe and how the body processes it. Participants had previously received other SMA treatments. The s…

This study tested a drug called nusinersen in 25 babies who have the genetic markers for spinal muscular atrophy (SMA) but no symptoms yet. The goal was to see if early treatment could delay or prevent the need for breathing help or death. The drug is given via a spinal injection…

This study tested whether virtual reality (VR) and biofeedback training can improve movement and motivation in 24 children with neuromuscular diseases like Duchenne muscular dystrophy and spinal muscular atrophy. Kids were split into three groups: VR training, biofeedback trainin…

This study observed 80 children with spinal muscular atrophy (SMA) types II and III to see how using braces (orthoses) affects their ability to sit, stand, and walk. Researchers looked back at medical records to describe the timing and type of braces used. The goal was to underst…

This study looked at how common and severe swallowing problems are in people with spinal muscular atrophy (SMA). Researchers used a special camera test (FEES) to examine swallowing in 79 participants. They also tracked changes over time, especially in those starting new SMA treat…

This study looked at why people with spinal muscular atrophy (SMA) have trouble exercising and feel very tired. Researchers tested 34 people with SMA who were already on standard treatments. They measured how much oxygen the body uses during exercise and how well muscles use oxyg…

This study looked at 18 adults with spinal muscular atrophy (SMA) who had been taking risdiplam for at least a year. Researchers measured how well nerves and muscles communicate using electrical tests and walking tests. The goal was to see if risdiplam improves nerve-muscle conne…

This study looked at 67 adults with spinal muscular atrophy (SMA) types 2 and 3 to see how well special electrical tests (MUNE and CMAP) can measure nerve damage over time. Participants did not receive any treatment; the goal was simply to learn if these tests are good at trackin…