SPINAL MUSCULAR ATROPHY (SMA)

This study tests a new medicine, ARGX-119, in children aged 5 to 17 with spinal muscular atrophy (SMA). The goal is to find the right dose and see if it is safe and helps improve muscle strength and movement. Participants will receive either the study drug or a placebo for 24 wee…

This study tests whether a 3-week intensive summer camp combining motor skill training and functional strength exercises can improve muscle function in children with spinal muscular atrophy (SMA). Twenty children aged 5-17 who are already on stable disease-modifying therapy will …

This study looks at how well a gene therapy called Vesemnogene lantuparvovec works for people with spinal muscular atrophy (SMA) in low- and middle-income countries. Researchers will track safety and whether patients reach key motor milestones. About 15 participants will be follo…

This study tests a special fabric shoulder brace designed to mimic muscle action. Researchers want to see if it helps people with neuromuscular disorders (like muscular dystrophy or ALS) move their arms and hands better. About 30 participants will be evaluated with and without th…

This study follows up to 60 babies with spinal muscular atrophy (SMA) found through newborn screening, plus 30 healthy babies, for up to 30 months. Researchers use special wearable devices worn at home to track muscle development. The goal is to learn when movement first starts t…

This study aims to understand the experiences of adults with spinal muscular atrophy (SMA) as they go through diagnosis and treatment. Researchers will survey 200 patients to find out why some are not receiving approved therapies. The goal is to identify barriers like cost or acc…

This study follows about 175 people with spinal muscular atrophy who already received the gene therapy OAV101 in a previous trial. Researchers will check for serious side effects and track developmental milestones over 5 years. The goal is to understand the long-term safety and h…

This study aims to understand fatigue and walking patterns in people with neuromuscular diseases like muscular dystrophy, spinal muscular atrophy, and Charcot-Marie-Tooth disease. Researchers will measure walking speed during a 6-minute test and track daily activity with a wearab…

This study aims to improve genetic counseling for spinal muscular atrophy (SMA), a severe nerve disease. Some carriers of the disease have a hidden gene duplication that current tests miss. Researchers will use advanced long-read DNA analysis to detect these hidden duplications i…

This study tests a portable digital device that analyzes walking without markers, comparing it to standard motion-capture systems. It includes 30 adults (ages 18-65) with certain neuromuscular diseases or healthy volunteers. The goal is to see if this simpler tool can reliably me…

This study follows 100 children with Duchenne muscular dystrophy or spinal muscular atrophy, identified through newborn screening, to see how their motor skills develop over time. Children wear special sensor garments or ankle monitors at home to track movement. The goal is to fi…