Neuromuscular disease

This study tests an oral drug called SAT-3247 in 51 boys aged 7 to 10 with Duchenne muscular dystrophy who can still walk. The goal is to find the best dose, check safety, and see if it helps muscle strength. Participants take the drug or a placebo for 12 weeks, and all continue …

This study tests an experimental drug called AOC 1044 for boys with Duchenne muscular dystrophy (DMD) who have a specific genetic change (exon 44 skipping). About 70 boys aged 7 to 16 who can still walk will receive either the drug or a placebo. The main goal is to see if the dru…

This Phase 1 trial tests the safety and tolerability of a new drug called AZD5492 in 72 adults with lupus, myositis, or rheumatoid arthritis. Participants receive one or two doses under the skin and are monitored for side effects and how the drug moves through the body. The study…

This trial is testing a robotic exoskeleton called ABLE Kids to see if it is safe and practical for children who have trouble walking due to conditions like cerebral palsy, spinal cord injury, or muscle weakness. Fifteen children will use the device in up to ten one-hour training…

This program provides access to an experimental drug, AOC 1044, for people with Duchenne muscular dystrophy (DMD) whose genetic mutation can be treated by skipping exon 44. The goal is to help control the disease and improve muscle function. Participants must be at least 2 years …

This study tests a single intravenous dose of a gene therapy called AB-1009 in 12 adults with late-onset Pompe disease. Participants must have been on enzyme replacement therapy for at least 6 months. The main goal is to check safety and side effects, while also seeing if the tre…

This study tests whether starting non-invasive ventilation (a breathing machine) earlier than usual helps people with ALS. Researchers will use a prediction tool to find those at high risk of breathing problems within 6 months. 48 participants will be randomly assigned to early N…

This study tests a new medicine called DYNE-251 in boys aged 4 to 18 with Duchenne muscular dystrophy (DMD) who can still walk. The goal is to see if it helps them move better and slows muscle damage. Participants will receive either the drug or a placebo every 4 weeks for about …

This phase 3 trial tests a single dose of NTLA-2001, a gene-editing therapy, in 60 adults with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN), a rare genetic disease that damages nerves. Participants are randomly assigned to receive either the active treatmen…

This early study tests a brain-computer implant that reads brain signals to help people with severe paralysis (from ALS, stroke, or spinal cord injury) communicate. The device aims to decode imagined speech and allow control of computers. Only 2 participants will be enrolled to c…

This study is testing the long-term safety of an experimental drug called PGN-EDODM1 in 48 adults with myotonic dystrophy type 1 (DM1) who have already taken the drug in a previous study. Participants will receive the drug by IV infusion and be monitored for side effects. The goa…

This study tests a brain implant that records brain signals to help people with locked-in syndrome control a computer. Two participants will have 128 electrodes placed on their brain surface. Researchers will train them to use the system at home for one year, aiming for accurate …

This study is testing a full-body suit that delivers mild electrical pulses to muscles. The goal is to see if it safely reduces spasticity, overactive reflexes, and pain in people with neurological conditions like multiple sclerosis or fibromyalgia. Fifteen adults will try both t…

This study tests whether cycling while using a virtual park app can slow the loss of motor function in children and teens with neuromuscular diseases like muscular dystrophy. Twenty-two participants will first receive standard care for 3 months, then use the virtual park bike 3 t…

This study tests whether a personalized exercise program can improve balance and physical function in adults with rare neuromuscular disorders like Charcot-Marie-Tooth disease, facioscapulohumeral muscular dystrophy, and myotonic dystrophy type 1. Participants will receive a 12-d…

This study tests a new type of breathing machine (volume-targeted ventilation) for people with slowly worsening muscle diseases who already use a standard breathing machine at night. The goal is to see if it can better control carbon dioxide levels and improve sleep comfort. Abou…

This study tests whether whole-body electrical muscle stimulation (WB-EMS) can help adults with neuromuscular diseases like ALS, SMA, and muscular dystrophy exercise safely. Because these conditions weaken the nerves that control muscles, traditional exercise is often too hard. W…

This study looks at whether adding a specific pressure setting (PEP) to a standard cough-assist machine can help people with ALS cough more effectively. ALS weakens the muscles needed to cough, raising the risk of lung infections. The trial will compare cough strength with and wi…

This study tests a new home-based program that uses a special treadmill and virtual reality to help children with conditions like cerebral palsy, muscle diseases, or obesity improve their walking. About 30 children aged 6 to 17 will try the program at home for at least 3 sessions…

This study tests whether playing a virtual reality walking game at home can reduce neuropathic pain in adults with incomplete spinal cord injury. Participants will use a headset to see virtual legs and walk in a virtual world for about 30 minutes twice daily over 10 days. The goa…

This study uses ultrasound, a safe imaging technique that uses sound waves, to get detailed pictures and measurements of nerves and muscles. Researchers aim to collect normal values from healthy adults and compare them with data from people who have neuromuscular disorders. The g…

This study gathers medical information from 200 adults with possible nerve, muscle, or autonomic nervous system disorders who are not already in other NIH studies. Participants undergo standard tests like nerve conduction studies, EMG, and physical exams. The data is stored anony…

This study follows 1,000 adults with myotonic dystrophy type 1 (DM1) over time to measure how the disease progresses. Researchers will track walking speed, hand muscle relaxation, grip strength, heart and lung function, and daily activity. The goal is to establish reliable biomar…

This study is testing a new, painless device called electrical impedance myography (EIM) to measure muscle health. Researchers will use it on healthy volunteers and people with neuromuscular diseases to see how well it works compared to standard tests like ultrasound and nerve st…

Researchers at the University of Pennsylvania are building a large repository of blood, DNA, and family history data from people with age-related brain diseases like Alzheimer's, Parkinson's, and ALS, as well as their family members. The goal is to support studies into the geneti…

This study is building a registry of people with spinal muscular atrophy (SMA) in the UK and Ireland. Participants complete questionnaires about their symptoms, motor function, medications, and family history. The goal is to gather detailed information to better understand the di…

This study looks at whether adding a game to a standard 6-minute walking test makes it more enjoyable for children with neuromuscular disorders. About 20 kids will take the test with and without the game to see if they walk farther and feel more motivated. The goal is to improve …

This study aims to collect movement data from up to 7,500 people, including healthy volunteers and those with movement disorders. Participants perform tasks like walking or reaching while cameras track reflective markers on their body. The goal is to build a reference database th…

This study collects tissues and MRI scans from 40 adults with ALS to find markers of disease progression. Researchers will compare imaging and genetic data from spinal cord and brain areas. The goal is to better understand ALS and guide future research.

This study creates a biobank to collect and store tissue samples—such as blood, muscle, saliva, urine, and stool—from people with neuromuscular diseases, their family members, and healthy volunteers. The samples will be shared with researchers to help them better understand these…

This study tracks quality of life in 200 adults with chronic respiratory failure who use breathing support like non-invasive ventilation. Researchers will use questionnaires to see how treatments impact daily living over time. The goal is to better understand patient experiences,…

This study looks at how to best use a machine that helps people with neuromuscular disease cough and clear mucus from their lungs. Researchers will test different pressure settings to see which works best without causing side effects. About 30 adults with stable or slowly progres…

This study tests whether a playful coaching feature on a cough-assist device helps children learn to use it more effectively. Researchers will compare learning speed and cough quality in healthy children aged 6-12, and later in children with neuromuscular diseases. The goal is to…

This study collects blood, skin, and spinal fluid samples along with health information from 2,500 adults with neuromuscular diseases like ALS, neuropathy, and muscular dystrophy. The goal is to store these samples and share them with researchers to speed up discoveries about how…

This study looks at how tired people with spinal muscular atrophy (SMA) feel during daily activities while taking the drug nusinersen. Researchers will use a new questionnaire called the SMA EFFORT to measure this fatigue. The goal is to better understand fatigue in SMA and see i…

This study is testing a new, non-invasive brain monitor (Neurosteer) in 100 ICU patients who are on breathing machines and sedatives. The monitor is a small device placed on the forehead that measures brain activity. Researchers want to see if it can accurately track levels of se…

This study looks back at the last 10 years in Denmark to understand how many people use breathing machines at home through a tube in their windpipe. Researchers will track which diseases lead to this need and how many patients survive one year after starting. The goal is to spot …

This study is testing whether special insoles worn inside shoes can measure how well children with Duchenne muscular dystrophy (DMD) or spinal muscular atrophy (SMA) walk. About 106 participants, including healthy children, will wear the insoles during walking tests and in daily …

This study measures how hard children with conditions like neuromuscular disease, scoliosis, or heart problems work to breathe. Researchers use a thin tube placed through the nose into the esophagus to measure breathing muscle strength and effort. The goal is to better understand…

This study explores whether small, skin-friendly sensors can detect early signs of muscle tone problems in newborns up to 8 weeks old. Researchers will compare sensor data with standard medical exams to see if the technology can identify atypical muscle development sooner. The go…

This study is collecting health data and blood samples from 100 people with specific types of hereditary spastic paraplegia (SPG4 and SPG5A). The goal is to create a shared database and biobank to better understand how the disease progresses. This information will help prepare fo…

This study is looking at whether a molecule in the blood called miR-1 can help doctors understand how muscle diseases like Duchenne muscular dystrophy and myotonic dystrophy are progressing. Researchers will compare miR-1 levels in 104 people, including patients with different mu…

This study aims to understand how upper-limb assistive devices—like grasping gloves, mealtime aids, and robotic arms—impact the daily lives of people with motor impairments. Researchers will interview and survey 150 regular users (including those with stroke, spinal cord injury, …

This study uses a safe, radiation-free device called electrical impedance tomography (EIT) to take pictures of the lungs in infants, children, and young adults up to age 25. Researchers will compare images from patients with chronic lung or heart conditions to healthy controls to…

This study uses a small button-like device worn on the thigh to measure how active people with neuromuscular diseases are over a week, every 6 months for 3 years. Participants also do a walking test and answer questionnaires. The goal is to better understand activity patterns, no…

This study looks at whether using a swallow gel or a semi-solid vehicle can help people with neurological conditions swallow pills more easily and safely. Researchers will observe 500 participants, including patients with swallowing disorders and healthy volunteers, as they swall…

This study looks at whether a sleep breathing test done at home can help doctors check how well a nighttime breathing machine is working for people with neuromuscular diseases. The goal is to see if the test is practical and gives useful information to adjust the machine settings…

This study tests a new device called pneuRIP that measures breathing without needles or tubes. It uses special bands placed around the chest and belly. Researchers will compare it to an existing monitor in 20 children—10 healthy and 10 with mild breathing problems from muscle or …

This study is testing a device called Electrical Impedance Tomography (EIT) that uses electrodes to create images of the lungs without radiation. Researchers want to see if it can provide useful information about lung function in children with chronic respiratory diseases, includ…

This study is checking whether a common nerve test called needle EMG causes muscle bleeding in people taking blood thinners (DOACs). About 30 minutes after the test, researchers will use ultrasound to look for any small bleeds in the muscles where the needle went in. The goal is …