Muscular dystrophy

This study tests the long-term safety and effectiveness of an experimental drug called BBP-418 (ribitol) in people with limb-girdle muscular dystrophy type 2I/R9, a rare genetic muscle-weakening disease. Participants who completed a previous study will take BBP-418 orally twice d…

This study tests the long-term safety and effectiveness of an experimental drug called VX-670 in adults with myotonic dystrophy type 1 (DM1). Participants who completed a previous VX-670 study can join. The drug is given through a vein, and researchers will monitor side effects a…

This early-stage trial is testing a drug called BMN 351 in 18 boys aged 4 to 10 with Duchenne muscular dystrophy who have a specific genetic change. The drug is designed to help the body produce a shorter but still useful version of the muscle protein dystrophin. The main goal is…

This Phase 2 trial tests a drug called RO7204239 in 51 adults with facioscapulohumeral muscular dystrophy (FSHD), a genetic condition that causes progressive muscle weakness. The drug is an antibody that blocks myostatin, a protein that normally limits muscle growth, to help pres…

This program allows eligible patients to receive RGX-202, a gene therapy, on a single-patient basis outside of a clinical trial. It is designed for those with serious conditions who have no other treatment options. Currently, the program is temporarily not available.

This early-stage trial is testing a drug called NS-050/NCNP-03 in 20 boys with Duchenne muscular dystrophy (DMD) who have a specific genetic mutation. The drug is designed to skip a faulty section of the dystrophin gene, allowing the body to produce a shorter but still functional…

This Phase 3 trial tests a cell therapy called deramiocel (CAP-1002) in 106 boys and young men with Duchenne muscular dystrophy. Participants receive either the cell therapy or a placebo every 3 months for a year, then all can receive the therapy for another year. The goal is to …

This study tests a single dose of SGT-001 gene therapy in 12 boys (children and teens) with Duchenne muscular dystrophy. The main goal is to check safety and how well the body tolerates the treatment. Participants will be followed for about 5 years to monitor side effects and any…

This Phase 3 trial tests a gene therapy called SRP-9001 for Duchenne muscular dystrophy (DMD), a severe muscle-wasting disease. It includes 148 males who can and cannot walk. Participants receive a one-time IV infusion of the therapy or a placebo, and are followed for about 128 w…

This phase 2 trial tests a daily oral drug called sevasemten (EDG-5506) in 244 adults and adolescents with Becker muscular dystrophy, a condition that causes progressive muscle weakness. The study compares the drug to a placebo to see if it can reduce muscle damage, improve walki…

This study tests satralizumab, a drug that calms inflammation, in 30 children aged 8 to 17 with Duchenne muscular dystrophy. The goal is to see if it improves bone density and muscle function. Participants receive injections for several months while continuing standard steroid th…

This study is for people with Duchenne muscular dystrophy (DMD) who have already taken part in a previous trial of BMN 351. It tests the long-term safety of weekly intravenous infusions of BMN 351 and whether it helps maintain physical function. Only 18 participants will be enrol…

This study is for people with FSHD, a genetic disease that causes muscle weakness. It tests the long-term safety and how well the body tolerates a drug called AOC 1020, given through a vein. About 84 adults who completed a previous study will take part. The main goal is to check …

This study tests a gene therapy called delandistrogene moxeparvovec in 13 children under age 4 with Duchenne muscular dystrophy. The goal is to see if it is safe and can help produce a key muscle protein. The children will be followed for about 5 years.

This study looks at the long-term safety and effects of a drug called EDG-5506 (sevasemten) in people with Becker muscular dystrophy, a muscle-weakening disease. About 260 adults and teens who were in earlier EDG-5506 studies will take the drug and be monitored for side effects a…

This study follows 500 people with Duchenne muscular dystrophy to see how well a gene therapy (ELEVIDYS) works compared to standard steroid treatment over time. Researchers will measure movement abilities, breathing, and safety, including liver problems. Participants must already…

This pilot study tests a device called Travagus One, which stimulates a nerve in the ear to reduce inflammation in boys with Duchenne muscular dystrophy (DMD). Twenty boys aged 5-17 will use the headset at home for 5 minutes twice a day for one week. Researchers will measure infl…

This study follows about 80 boys with Duchenne muscular dystrophy who have already taken vamorolone in earlier studies. Researchers want to see how safe the drug is over a longer time, especially its effect on bone health, like spine fractures. The boys continue taking vamorolone…

This study looks at the long-term safety and effects of a drug called SAT-3247 in 10 people with Duchenne muscular dystrophy who were in a previous trial. Participants take the drug by mouth five days a week for about 11 months. Researchers will check for side effects and measure…

This phase 3 study is testing the long-term safety and effectiveness of an experimental drug called AOC 1001 (del-desiran) for people with myotonic dystrophy type 1 (DM1), a genetic muscle disorder. The trial enrolls 230 adults who have completed a prior AOC 1001 study and will r…

This early-phase trial tests the safety and tolerability of a new drug called GRT6019 in 24 healthy men. Participants receive multiple doses over 4 weeks and are monitored for side effects and how the drug moves through the body. The goal is to see if GRT6019 is safe enough to st…

This early-stage trial tests a daily injection of ASA-001 in two adults with a rare genetic muscle disease (ADSS1 deficient myopathy). The main goals are to see if the drug is safe and if it can slow the disease. Participants will take the drug for 8 months and have clinic visits…

This study follows 66 boys with Duchenne muscular dystrophy who previously received RGX-202 gene therapy. Researchers will monitor side effects and measure muscle function over time, such as how fast they can stand, walk, or climb. The goal is to see if the treatment remains safe…

This early-stage trial tests a single dose of a gene therapy called JWK007 in 3 boys aged 5-10 with Duchenne muscular dystrophy. The main goal is to check safety and tolerability, while also looking at whether it helps muscle function. It is a very small, first-in-human study, so…

This study looks at the long-term safety of an experimental drug called WVE-N531 in people with Duchenne muscular dystrophy (DMD) who have already taken it in a previous study. About 175 participants will receive the drug and be monitored for side effects, heart and lung function…

This study tests a single dose of SRP-9003 gene therapy in 17 people with limb girdle muscular dystrophy 2E/R4, a genetic muscle-weakening disease. The goal is to restore a missing protein in muscle cells and improve muscle function. Both walkers and non-walkers can join, and the…

This study tests a gene therapy called PF-06939926 in 114 boys with Duchenne muscular dystrophy (DMD), a severe muscle-wasting disease. Two-thirds receive the gene therapy, while one-third get a placebo, but can switch to the real treatment after one year. The main goal is to see…

This Phase 3 trial tests whether higher doses of eteplirsen (Exondys 51) can safely improve muscle function in boys with Duchenne muscular dystrophy whose genetic mutation allows exon 51 skipping. About 160 ambulatory boys will receive one of three doses (30, 100, or 200 mg/kg) t…

This early-phase trial tests a single-dose gene therapy called SRP-9003 in 6 people with limb girdle muscular dystrophy type 2E/R4, a rare genetic muscle-weakening disease. The main goals are to check safety and see if the therapy can produce the missing beta-sarcoglycan protein …

This early-stage trial tests a single intravenous dose of a gene therapy (ATA-200) in 4 children aged 6-12 with limb-girdle muscular dystrophy type 2C/R5 (LGMD2C), a rare genetic muscle-weakening condition. The goal is to see if the treatment is safe and tolerable by delivering a…

This phase 3 trial tests an experimental drug called AOC 1001 in 159 adults with myotonic dystrophy type 1, a genetic condition that causes muscle weakness and stiffness. Participants receive either the drug or a placebo by intravenous infusion. The main goal is to see if the dru…

This early-phase trial tests a new drug called RAG-18 in 12 boys aged 4-15 with Duchenne muscular dystrophy. The drug is a small activating RNA given through an IV, designed to help muscles work better. The main goal is to check safety and how the body handles the drug, with earl…

This study tests an experimental drug called sevasemten in 76 children aged 4-9 with Duchenne muscular dystrophy. The goal is to check the drug's safety, how the body processes it, and its effect on muscle health markers. Participants are randomly assigned to receive the drug or …

This study tests an experimental drug called EDG-5506 (sevasemten) in 43 children and teens aged 6 to 17 with Duchenne muscular dystrophy who have already received gene therapy. The goal is to see if the drug is safe and how it affects muscle damage markers. Participants are rand…

This study tests the long-term safety and effectiveness of a cell therapy called deramiocel (CAP-1002) in people with Duchenne muscular dystrophy who completed the earlier HOPE-2 trial. Participants receive an infusion of deramiocel every 3 months for about 5 years, with the opti…

This early-stage trial tests a gene therapy called ATA-100 for people with LGMDR9, a rare genetic muscle disease that causes progressive weakness. Six adults receive a single intravenous infusion of the therapy, which delivers a working copy of the FKRP gene. The main goal is to …

This trial gives a single child with a rare form of congenital muscular dystrophy access to their own banked stem cells. The cells are given through 14 IV infusions to see if they are safe and can help control the disease. Because it involves only one patient, the results will be…

This study tests a drug called BBP-418 (Ribitol) in 81 people aged 12 to 60 with limb girdle muscular dystrophy type 2I (LGMD2I), a genetic condition that causes progressive muscle weakness. Participants receive either the drug or a placebo for 36 months to see if it slows the di…

This study tests the long-term safety and effectiveness of an experimental drug called DS-5141b (Renadirsen) in 8 people with Duchenne muscular dystrophy who have already completed a previous study. Participants receive a weekly injection under the skin. Researchers will monitor …

This Phase 3 trial tests whether TAS-205, an oral drug, can improve movement and safety in people with Duchenne muscular dystrophy. It includes 104 participants, both those who can walk and those who cannot. The study compares TAS-205 to a placebo over 52 weeks.

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 whether a 6-week, caregiver-assisted breathing program done at home with remote coaching is practical and helpful for children with Duchenne muscular dystrophy. Twelve children will do breathing exercises, airway clearance, and relaxation techniques at least 5 ti…

This study tests whether a dual-task training program—combining physical exercises like walking with mental tasks like counting—can improve both motor and cognitive function in 16 boys aged 6–12 with Duchenne muscular dystrophy. Participants will be randomly assigned to either st…

This study is testing the long-term safety and effectiveness of a drug called mexiletine PR for people with myotonic dystrophy types 1 and 2. The drug is taken once daily as a liquid to help reduce muscle stiffness (myotonia). The study includes 176 adults and teens who have alre…

This 24-month observational study follows 100 people aged 12–50 with Limb Girdle Muscular Dystrophy type R1 (LGMD R1). Researchers will test whether a motor function scale called NSAD and muscle fat measurements from MRI can reliably track disease progression. The goal is to vali…

This 24-month observational study will follow 80 people with Becker muscular dystrophy (BMD) to better understand how the disease progresses. Researchers will measure muscle strength, walking speed, breathing, and heart function using standard tests. The goal is to identify which…

This study tests new radio frequency coils for MRI scanners to see if they can produce better images in children, including those with Duchenne muscular dystrophy. Researchers will check for side effects like heating and discomfort, and measure image quality. The goal is to impro…

This study looked at whether having more frequent contact with a clinician (at least once a week) improves satisfaction for people with long-lasting musculoskeletal conditions. Participants were split into two groups: one with standard contact and one with extra check-ins via tex…

This long-term study looks at children and adults with inherited nerve and muscle disorders that start early in life, like muscular dystrophy. Researchers will track symptoms over time and collect genetic samples from affected individuals, their family members, and healthy volunt…

This study follows 1000 Chinese patients with myotonic dystrophy type 1 (DM1) to understand how the disease affects multiple body systems and leads to disability. Researchers will collect health data and blood samples every 3 to 6 months for several years. The goal is to identify…

This study looks at whether diabetes or blood sugar problems can worsen thinking and memory issues in people with myotonic dystrophy type 1. Researchers will use MRI brain scans and thinking tests over 4 years to track changes. The goal is to understand why some patients have mor…

This study tests whether a Norwegian clinic (NSAC) helps people with common mental health issues or muscle pain return to work sooner. 2500 adults are split into three groups: one gets treatment quickly, one waits 10-14 weeks, and one gets a basic check-up. Researchers will track…

This study is testing a virtual reality game designed specifically for people with Duchenne muscular dystrophy (DMD). Six participants aged 7 and older will play the game once using a VR headset and hand tracking. Researchers will measure how easy and enjoyable the game is, and w…

This study is testing a new way to care for people with rare diseases. It will use advanced genetic testing and a team of specialists to help diagnose patients faster and coordinate their care better. The study involves 136 participants with certain rare diseases and aims to redu…

This study involves 324 adults with facioscapulohumeral muscular dystrophy (FSHD) across 14 international sites. Researchers are testing two new measurement tools—a functional test called FSHD-COM and a muscle-impedance device—to better track disease progression. The goal is to i…

This study measures how often people with myotonic dystrophy type 1 fall and what factors affect their balance. Researchers will also assess fear of falling and leg muscle strength. The goal is to better understand fall risk in this condition.

This study looks back at the medical records of about 4 million people who had physical or occupational therapy for muscle and joint problems. Researchers want to see if different ways of giving therapy lead to different results. No new treatments are tested—the goal is to learn …

This study aimed to see if a mobile monitoring tool could accurately identify surgical site infections (SSIs) in orthopedic surgery patients, compared to the usual manual review. The study was withdrawn before enrolling any participants, so no results are available. It was design…

This study looks at how the muscles in the arms and hands change in people with Duchenne muscular dystrophy (DMD). Researchers will measure muscle tone, stiffness, and elasticity using a device called MyotonPRO. They will also test hand function and muscle strength. The goal is t…

This study looks at how thinking skills (called executive functions) relate to everyday activities like self-care and play in children with Duchenne muscular dystrophy (DMD). Researchers will compare 38 children with DMD to healthy children using surveys and functional tests. The…

This study follows about 400 people with Duchenne muscular dystrophy who have already received the gene therapy SRP-9001 in an earlier study. The goal is to monitor their safety and muscle function over time. No new treatment is given in this study.

This study follows 25 people with limb-girdle muscular dystrophy type 2A (LGMD2A), a rare genetic disease that causes progressive muscle weakness. Researchers will measure how muscle strength changes over time and how it affects quality of life. The goal is to better understand t…

This study collects blood or skin samples from 100 adults with inherited heart rhythm disorders (like Long QT Syndrome or Brugada Syndrome) and healthy volunteers. Researchers will turn these samples into stem cells and then into heart cells to study how these diseases work and t…

This study is working to create better tools for measuring muscle function in people with facioscapulohumeral muscular dystrophy (FSHD). Researchers will follow 100 adults with FSHD for up to 24 months, testing new ways to track disease progression. The goal is to make future cli…

This study was designed to track heart muscle changes in people with Duchenne muscular dystrophy using two cardiac MRIs taken two years apart, along with blood tests for heart failure markers. It planned to enroll participants aged 6 and older with a confirmed genetic diagnosis. …

This study follows 205 people with four types of limb-girdle muscular dystrophy (LGMD) to understand how the disease changes over time. Participants will have their muscle strength, movement, and breathing tested regularly for up to 5 years. No treatment is given; the goal is to …

This study was designed to track the natural course of gamma-sarcoglycanopathy (LGMDR5), a rare muscle-weakening disease, over two years. Researchers planned to measure changes in muscle strength, walking ability, and daily function in patients aged 6 to 35. The goal was to bette…

This study aims to find better ways to measure disease progression in people with advanced facioscapulohumeral muscular dystrophy (FSHD) who use wheelchairs. Researchers will test various muscle strength and function tests over two years in 30 adults. The goal is to develop relia…

This observational study will follow 300 people with Duchenne muscular dystrophy who are already taking exon-skipping therapies (eteplirsen, golodirsen, or casimersen) as part of their routine care. Researchers will collect data on movement, lung function, and heart function over…

This observational study will enroll 40 adults with facioscapulohumeral muscular dystrophy (FSHD) to understand how muscle degeneration affects movement. Researchers will use MRI to assess muscle health and 3D motion capture to analyze walking and posture. The goal is to create a…