SPINAL MUSCULAR ATROPHY (SMA)

This study follows 175 patients with spinal muscular atrophy (SMA) for five years after they received the gene therapy OAV101 in earlier trials. The main goal is to monitor the long-term safety of the treatment and see if its benefits in improving motor skills are sustained over …

This study is observing how well a gene therapy called Vesemnogene works for spinal muscular atrophy (SMA) in real-world settings in lower-income countries. Researchers will follow 15 patients with SMA who receive this one-time treatment to monitor their safety and see if they ac…

This study is testing a new drug called ARGX-119 in children aged 5 to 18 with spinal muscular atrophy (SMA). The goal is to see if the drug is safe and if it can improve muscle strength and walking ability when given along with the child's current SMA treatments. For the first 2…

This study is testing a new, more detailed genetic analysis method to better identify people who carry the gene for Spinal Muscular Atrophy (SMA). Current carrier tests can miss some people who have a specific, hard-to-detect genetic pattern. The goal is to improve screening so c…

This study is testing a special fabric shoulder brace designed to mimic muscle support. It aims to see if wearing this device helps people with conditions like muscular dystrophy or ALS perform arm movements needed for daily tasks, such as reaching or brushing hair. Researchers w…

This study is testing a portable digital device that measures walking patterns without needing complex lab equipment. Researchers want to see if this simple device can accurately track how people with neuromuscular diseases walk compared to healthy volunteers. The goal is to crea…

This study aims to better understand how fatigue affects walking in people with neuromuscular diseases like muscular dystrophy and spinal muscular atrophy. Researchers will observe 120 adults who can walk independently during a clinic walking test and for one week at home using a…

This study aims to understand the real-world experiences of adults with Spinal Muscular Atrophy (SMA) as they navigate diagnosis and treatment. Researchers will review medical records and conduct interviews with up to 200 patients to identify why many adults aren't receiving avai…

This study aims to understand how motor skills develop in very young children diagnosed with spinal muscular atrophy (SMA) or Duchenne muscular dystrophy (DMD). It will follow 100 children under age 4 for up to 30 months using special wearable sensors at home, like a smart jumpsu…

This study aims to understand if two natural gut hormones, GIP and GLP-2, can help slow down bone loss in children with spinal muscular atrophy, cerebral palsy, or Duchenne muscular dystrophy. Researchers will measure bone health markers in the blood of 8 children who use wheelch…