Hereditary motor neuron disease

This early-stage trial tests a single injection of ARO-ATXN2 in 36 adults with spinocerebellar ataxia type 2, a rare genetic disorder that affects movement and coordination. The main goal is to see if the drug is safe and how the body processes it. Participants are randomly assig…

This study planned to test whether injecting botulinum toxin (Botox) into the salivary glands could reduce drooling in people with true bulbar palsy, a condition that causes swallowing problems after a brain stem injury. The trial was designed to compare the injections against st…

This phase 3 trial tests whether the drug troriluzole can slow the progression of spinocerebellar ataxia, a rare genetic disorder that affects coordination and balance. About 300 adults with different types of SCA are randomly assigned to take either troriluzole or a placebo dail…

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 looks at whether the drug troriluzole can slow the progression of spinocerebellar ataxia (SCA), a rare genetic disease that affects movement and balance. Researchers will compare 909 patients who took troriluzole for up to three years with similar patients who did not …

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 was designed to test whether the drug govorestat could improve symptoms of Charcot-Marie-Tooth disease caused by sorbitol dehydrogenase deficiency (CMT-SORD), a rare nerve condition. It planned to enroll people aged 16 to 65 and compare govorestat to a placebo over 36 …

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 early-stage trial tests a gene therapy called PBFT02 for frontotemporal dementia (FTD) in people with specific genetic mutations. The therapy delivers a working copy of the GRN gene directly into the brain. The study involves 30 adults and primarily checks for safety and sid…

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 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 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 phase 3 trial tests whether the drug tofersen can delay or prevent ALS in adults who carry a SOD1 gene mutation but have no symptoms yet. About 158 participants will receive either tofersen or a placebo, and researchers will track how many develop ALS within two years. The g…

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 tests an experimental drug called ION363 in people with a rare, inherited form of ALS caused by FUS gene mutations. The goal is to see if the drug can slow the disease and help people live longer. About 89 participants will receive the drug via spinal injection. This i…

This long-term study is testing higher doses of nusinersen (Spinraza) in people with spinal muscular atrophy who already completed a previous nusinersen study. The main goal is to check safety over several years, including side effects, heart health, and growth. Participants rece…

This study tests whether metformin, a widely used diabetes drug, is safe for people with a specific genetic form of ALS (C9orf72). Over 24 weeks, 41 participants will take metformin to see if it reduces toxic proteins linked to the disease. The goal is to determine if metformin c…

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 gene therapy called AMT-162 in 20 adults with a specific genetic form of ALS (SOD1-ALS). The treatment is given as a single injection into the spinal fluid. The main goal is to check safety and tolerability, while also looking for early signs that i…

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 provides an experimental stem cell treatment (HB-adMSCs) to an 83-year-old man with Primary Lateral Sclerosis, a rare nerve disease that causes progressive muscle weakness. The patient's own banked stem cells are used, aiming to slow the disease. This is a single-patie…

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 is testing whether a simple saliva sample can help diagnose amyotrophic lateral sclerosis (ALS). Researchers will analyze RNA in the saliva of 653 people, including ALS patients and healthy volunteers. If the test works, it could offer a faster, less invasive way to di…

This study tests whether an AI tool can help radiologists read brain CT and MRI scans more accurately and quickly. Researchers will compare how well doctors, AI alone, and doctors using AI together can spot abnormalities, urgent findings, and classify diseases. The goal is to red…

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 12-week online program for mothers of infants (12-36 months old) with SMA Type 1. The program aims to teach mothers how to support their baby's development and improve their own knowledge. Thirteen mothers will take part, with 10 receiving the program and 3 rec…

This study tests whether a home-based brain stimulation device (tDCS) combined with activity therapy can help improve cognitive and language problems in people with stroke, brain tumors, or neurodegenerative conditions like Parkinson's or Alzheimer's. Fifty-five participants will…

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 early-stage trial tests the drug dalfampridine (Ampyra), already used for multiple sclerosis, in 35 adults with primary lateral sclerosis or upper motor neuron ALS. The main goal is to see if it safely improves walking speed, measured by a timed 25-foot walk. Researchers wil…

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 checks whether a French version of a scale called PLSFRS works well for people with primary lateral sclerosis (PLS), a rare nerve disease. Researchers will ask 80 patients to fill out the questionnaire during routine check-ups every 3 to 6 months. The goal is to see if…

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…