Muscular dystrophy

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 study tests a brain implant that records and stimulates brain areas to help adults with severe paralysis (from spinal cord injury, ALS, or stroke) control assistive devices like computers or wheelchairs. The main goal is to check safety, and researchers will also see if part…

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 trial is testing whether a lower weekly dose of the corticosteroid prednisolone (5 mg/kg per week) can be as effective as the standard higher dose (10 mg/kg per week) in preserving motor function in young boys with Duchenne muscular dystrophy (DMD). The study will enroll boy…

This study follows 250 boys (ages 2 and older) with Duchenne muscular dystrophy who are taking vamorolone (AGAMREE). Researchers will monitor side effects, growth, bone health, heart function, and quality of life over time. The goal is to better understand the long-term safety an…

This study follows about 300 people with Duchenne muscular dystrophy who are taking the drug givinostat as part of their normal care. Researchers will track safety issues like low platelet counts and bleeding, and see how patients' muscle function changes over up to 5 years. The …

This early-stage study tests a new gene-editing medicine called PBGENE-DMD in 18 boys aged 2 to 7 with Duchenne muscular dystrophy. The treatment aims to correct the genetic mistake that causes the disease, potentially restoring muscle strength. Researchers are first checking if …

This early-stage trial tests a brain-computer interface called BrainGate for people with paralysis from conditions like ALS or spinal cord injury. A small sensor is placed in the brain to interpret movement-related signals, allowing users to control a tablet computer just by thin…

This study tests the safety and feasibility of the BrainGate2 system, a brain-computer interface. Tiny sensors are placed in the brain area that controls movement, allowing people with tetraplegia (paralysis of all four limbs) to control a computer cursor or other assistive devic…

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 study is testing whether a drug called tadalafil (often used for erectile dysfunction) combined with a home cycling program can help boys with Duchenne muscular dystrophy. The drug aims to improve blood flow to muscles, which is often poor in DMD, while exercise builds stren…

This study tests a wearable robotic exoskeleton designed to improve walking in children aged 3 to 17 with conditions like cerebral palsy, spina bifida, muscular dystrophy, or incomplete spinal cord injury. The device fits on the legs and can assist or resist movement during walki…

This study is testing a handheld device called mScan that uses a tiny, painless electrical current to measure muscle health. Researchers want to see if it can give similar results to an MRI, but faster and more conveniently. The study involves 150 adults with and without muscle d…

This pilot study tests whether VM100, a nutritional supplement made from ten natural ingredients, can improve quality of life for people with Duchenne muscular dystrophy (DMD). About 20 participants aged 8 and older will take VM100 or a placebo for 10 weeks. Researchers will meas…

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 a powered leg brace called the Nomad in 36 people who have trouble walking due to conditions like stroke, multiple sclerosis, or spinal cord injury. Participants will use the brace at home for three months to see if it improves their walking speed, balance, and q…

This study tests whether taking amino acid supplements, along with a special diet and exercise program, can help people with facioscapulohumeral muscular dystrophy (FSHD) gain muscle, lose fat, and improve physical abilities like walking and strength. About 48 adults with FSHD an…

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 aims to learn more about rare inherited disorders that affect the brain, spinal cord, muscles, and nerves. Researchers will collect medical history, perform exams, and run genetic tests on up to 3,500 participants. No new treatments are tested; the goal is to better un…

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 will test how the heart drug empagliflozin is absorbed and processed in 10 children with Duchenne muscular dystrophy, ages 8 to 18. The goal is to find the best dose for protecting the heart in this rare disease. Participants will take the drug by mouth and have blood …

This study is building a UK-wide registry of people with facioscapulohumeral muscular dystrophy (FSHD), a rare genetic condition causing progressive muscle weakness. Participants complete questionnaires about their symptoms, pain, quality of life, and medical history. The goal is…

This study is testing a new leg exoskeleton designed by the NIH to help children and young adults with muscle weakness from conditions like cerebral palsy or spinal cord injury. Researchers want to see how well the device works in different real-world settings, like walking on a …

This early-stage study tests a brain implant called BrainGate in just 3 people with severe paralysis or speech loss from conditions like ALS or spinal cord injury. The goal is to see if the device is safe and can let users control a computer cursor or other tools by thought alone…

This study will collect electronic health records from up to 2500 people with Duchenne or Becker muscular dystrophy, including female carriers, across U.S. clinics. The data will be combined with patient-reported information to give researchers a fuller picture of the diseases. T…

This study is testing whether a smartphone app can accurately measure how people walk, without needing special markers or equipment. Researchers will compare the app's measurements to a standard motion-capture system in 30 volunteers—some with neuromuscular diseases like SMA or m…

This study is building a worldwide online registry for people with Duchenne or Becker muscular dystrophy, including female carriers. Participants share their health information to help researchers learn more about the disease and to match patients with clinical trials. The goal i…

This early study tests whether a brain implant can help people with severe paralysis from conditions like ALS, spinal cord injury, or stroke control devices using their thoughts. The implant records brain signals to decode text or synthesized speech. Only 3 adults will participat…

This study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravatin…

This study is looking for 75 adults with myotonic dystrophy (a muscle disease) and healthy volunteers to test new muscle imaging techniques. The goal is to find better ways to measure muscle changes over time, which could help future treatment studies. Participants will undergo M…

This study aims to find better ways to measure fatigue and walking problems in people with neuromuscular diseases like muscular dystrophy and spinal muscular atrophy. Researchers will use a wearable sensor to track physical activity for one week in daily life and during a walking…

This study tests a brain implant that reads signals from the brain to help people who have lost the ability to speak fluently communicate through a computer just by trying to talk. It involves up to 2 participants with conditions like spinal cord injury or ALS. The main goal is t…

This 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …

This registry aims to connect people diagnosed with myotonic dystrophy (DM) or facioscapulohumeral muscular dystrophy (FSHD) with researchers. By joining, participants help scientists better understand these inherited muscle-weakening diseases and develop future treatments. The r…

This study aims to find the genes that cause inherited heart and muscle diseases like cardiomyopathy, arrhythmias, and muscular dystrophy. Researchers will collect blood samples from up to 2,000 patients and their families to look for genetic mutations. The goal is to better unde…