SPINAL MUSCULAR ATROPHY

This study tested a single spinal injection of a gene therapy called OAV101 in children and teens (ages 2 to 18) with spinal muscular atrophy (SMA) who had previously stopped other SMA treatments. The main goal was to see if the one-time treatment was safe and well-tolerated. Res…

This study tested a single, one-time gene therapy injection in infants who were diagnosed with spinal muscular atrophy (SMA) but had not yet shown symptoms. The goal was to see if delivering a working copy of a missing gene could prevent or control the severe muscle weakness and …

This study tested the safety and how the body processes the drug risdiplam in 174 adults and children with spinal muscular atrophy (SMA), a genetic muscle-wasting disease. All participants had previously tried other SMA treatments. The main goal was to see if risdiplam was safe a…

This completed Phase 3 trial tested whether adding the experimental drug apitegromab to standard SMA treatments could improve muscle function in 188 children and young adults (ages 2-21) with later-onset spinal muscular atrophy. All participants were already receiving approved SM…

This study tested whether regular spinal fluid injections of an experimental drug called nusinersen could prevent or delay the onset of spinal muscular atrophy (SMA) in infants who had the genetic cause but showed no symptoms yet. It involved 25 infants under 6 weeks old who rece…

This study looked back at past medical records to understand how leg braces (orthoses) affected movement in children with spinal muscular atrophy (SMA) types II and III. Researchers analyzed data from about 80 patients to see when and how often they achieved sitting, standing, an…

This study aimed to understand why people with Spinal Muscular Atrophy (SMA) who are on treatment still experience severe fatigue and reduced exercise capacity. Researchers observed 34 ambulatory SMA patients who had been on standard SMA therapies for at least 6 months. They meas…

This study aimed to better understand and measure swallowing problems in people with spinal muscular atrophy (SMA). Researchers used a small camera to look at the throat while patients swallowed, applying standard scoring systems to track the severity of issues. The goal was to g…

This study aimed to understand how spinal muscular atrophy (SMA) progresses in adults by measuring electrical signals from their nerves and muscles. Researchers followed 67 adults with SMA, some receiving a new drug and some not, to see how these measurements changed over time. T…

This study aimed to understand how the approved drug Risdiplam affects the connection between nerves and muscles in adults with Spinal Muscular Atrophy (SMA). It observed 18 adults who had already been taking the daily oral medication for at least one year. Researchers performed …