Spinal muscular atrophy

This study tracks the safety and effectiveness of Spinraza (nusinersen) in people with spinal muscular atrophy (SMA) who receive the drug as part of routine care in Korea. Researchers will monitor for side effects and measure changes in motor skills over time. The goal is to see …

This study follows 403 adults and children with spinal muscular atrophy who are already taking risdiplam (Evrysdi) as prescribed by their doctor. Researchers will track side effects and how well the drug works over about two years. The goal is to see if risdiplam remains safe and…

This study follows 175 people with spinal muscular atrophy who previously received the gene therapy Zolgensma in clinical trials. Researchers will monitor them for 5 years to track serious side effects and developmental milestones. The goal is to understand how safe and effective…

This early-stage trial tests a new drug called BIIB115 for spinal muscular atrophy (SMA), a genetic condition that causes muscle weakness. The study first gives a single dose to healthy adult volunteers to check safety, then moves to children with SMA who have already received th…

This study tests the drug risdiplam (Evrysdi) in infants up to 6 weeks old who have a genetic diagnosis of spinal muscular atrophy (SMA) but no symptoms yet. The goal is to see if early treatment can help them reach motor milestones like sitting without support. The trial involve…

This study tests a gene therapy called vesemnogene lantuparvovec in about 20 people with spinal muscular atrophy (SMA), a genetic condition that causes muscle weakness. The therapy delivers a working copy of the SMN1 gene to help muscles work better. The main goal is to check saf…

This study tests whether adding an experimental drug (RO7204239) to an existing SMA medicine (risdiplam) can help people with spinal muscular atrophy build stronger muscles and move better. The trial includes about 259 children and young adults, ages 2 to 25, who can walk. Resear…

This study tests whether adding taldefgrobep alfa to standard SMA treatments can improve muscle function in people with spinal muscular atrophy (SMA). About 269 participants, both walkers and non-walkers, will receive either the drug or a placebo for 48 weeks. The main goal is to…

This early-stage trial tests a new gene therapy called NKG001 in 21 children under 5 with spinal muscular atrophy (SMA). The therapy is given as a single dose, either through a vein or combined with a spinal injection. The main goal is to check safety and find the best dose, not …

This study tests a higher dose of nusinersen (Spinraza) in 45 teenagers and adults with spinal muscular atrophy (SMA) who cannot walk and have already taken risdiplam. Participants receive two 50 mg loading doses two weeks apart, then 28 mg every four months for about two years, …

This expanded access program provides apitegromab, an experimental drug that blocks myostatin to help maintain muscle strength, to eligible patients with spinal muscular atrophy (SMA) before it is officially approved. Participants must be at least 2 years old and have a confirmed…

This pilot study tests whether combining intensive hand-arm and leg therapy with strength training can improve motor function in children with spinal muscular atrophy (SMA). Five children will attend one 6-hour session each weekend for 15 weeks. Researchers will check if the ther…

This study follows 20 adults with spinal muscular atrophy (SMA) type II who are already taking SPINRAZA. Researchers will measure motor function using a 32-point scale over 27 months to see if the drug helps maintain or improve movement. The goal is to better understand how SPINR…

This study tests a new gene therapy called SKG0201 in 12 infants with spinal muscular atrophy type 1, a severe muscle-weakening disease. The treatment aims to improve survival and motor skills by delivering a working gene. Researchers are checking safety and how well the therapy …

This early-stage trial tests a single injection of gene therapy for people with SMARD1 or CMT2S, rare diseases caused by mutations in the IGHMBP2 gene. The therapy delivers a working copy of the gene directly into the spinal fluid. Ten participants, ranging from infants to childr…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This study aims to create a simple test battery to determine fall risk in people with neuromuscular disorders, such as muscular dystrophy or ALS. Researchers will assess 108 participants using several physical tests like walking, standing, and rising from a chair. The goal is to …

This study tests a wearable robotic exoskeleton called EXPLORER in 15 children with movement problems from conditions like cerebral palsy. The goal is to see if it helps them walk better in their everyday environments, such as home and the community. The study focuses on safety, …

This study is a nationwide registry in China that will follow adults with a genetic form of spinal muscular atrophy (SMA). The goal is to describe how the disease naturally progresses over time and how disease-modifying treatments are used in real-world settings. By collecting da…

This study is observing 217 people with ALS and related conditions like frontotemporal dementia and hereditary spastic paraplegia. Researchers aim to connect each person's genetic makeup with their symptoms and find biological markers in blood and spinal fluid. No new treatments …

This study looks at people with ALS and similar diseases like frontotemporal dementia and hereditary spastic paraplegia. Researchers want to understand how genes affect the disease and find biological markers (biomarkers) to help develop future treatments. About 708 participants,…

This study enrolls people with ALS and related disorders, as well as healthy volunteers, to track biological markers (biomarkers) in urine, blood, and spinal fluid. The goal is to better understand how these markers change over time, which could help design more effective future …

This study follows 1000 people with upper motor neuron disease who are about to receive the Cionic Neural Sleeve. The sleeve uses electrical stimulation to help muscles contract at the right time during movement. Researchers will track changes in health-related quality of life us…

This study looks at whether a power wheelchair that can lift a child from sitting to standing is practical for kids with conditions like cerebral palsy, spinal cord injuries, or genetic diseases. Only 4 children aged 5-17 are taking part. The goal is to see if the chair helps the…

This study follows 35 infants with spinal muscular atrophy (SMA) who are receiving gene therapy or other advanced treatments. Researchers use small wearable motion sensors to measure how well the babies move their arms and legs over two years. The goal is to create a more precise…

This study is a registry that collects information on up to 600 children in China with spinal muscular atrophy (SMA). It aims to describe how the disease progresses and how treatments are used in everyday medical practice. The study does not test a new drug but gathers data to be…