SPINAL MUSCULAR ATROPHY

This study tested a single dose of a gene therapy called AVXS-101 in 30 infants with spinal muscular atrophy (SMA) who were diagnosed before symptoms started. The goal was to see if the treatment could help them reach motor milestones like sitting and standing alone. Results show…

This study tested a drug called apitegromab in 188 people aged 2 to 21 with later-onset spinal muscular atrophy (SMA types 2 and 3) who were already taking nusinersen or risdiplam. The goal was to see if adding apitegromab could improve muscle function more than a placebo. Partic…

This study tested the safety and how the body handles risdiplam in 174 adults, children, and infants with spinal muscular atrophy (SMA). Participants had previously received other SMA treatments. The goal was to see if risdiplam is safe and to measure its levels in the blood. Thi…

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 medicines. The goal was to see if the treatment was safe and could help maintain or improve muscle function. Researchers monitor…

This study tested a drug called nusinersen in 25 infants who have the genetic markers for spinal muscular atrophy (SMA) but do not yet have symptoms. The goal was to see if giving the drug early could prevent or delay the need for breathing support or death. The drug is given via…

This study looked at 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. Children were split into three groups: VR training, biofeedback …

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 patients. They also tracked how swallowing changed over time, especially in those starting ne…

This study looked at how braces (orthoses) affect sitting, standing, and walking in 80 people with spinal muscular atrophy types 2 and 3. Researchers reviewed past medical records to see when and how often these skills were achieved. The goal was to better understand the role of …

This study looked at 18 adults with spinal muscular atrophy (SMA) who had taken the oral medication risdiplam for at least one year. Researchers measured how well nerves and muscles communicate using electrical tests and walking tests. The goal was to see if risdiplam improves ne…

This study looked at why people with spinal muscular atrophy (SMA) have low energy and get tired quickly during exercise. Researchers measured oxygen use during cycling and walking tests in 34 SMA patients who were already on standard treatments. The goal was to better understand…

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…