Progressive muscular dystrophy

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 a single dose of a gene therapy called AB-1003 in 10 adults with a rare genetic muscle disease (LGMD2I/R9). The goal is to see if it is safe and can help improve muscle function. Participants must be able to walk or run 10 meters in under 30 seconds.

This early-stage trial tests the safety and tolerability of a new drug called VX-670 in 52 adults with myotonic dystrophy type 1 (DM1), a genetic condition that causes muscle weakness and other problems. Participants receive either VX-670 or a placebo, and researchers will monito…

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 is testing EPI-321, a one-time gene therapy designed to silence the faulty gene that causes facioscapulohumeral muscular dystrophy (FSHD). The study will enroll 12 adults with FSHD Type 1 to see if the treatment is safe and tolerable, and whether it shows a…

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 study tests an experimental drug, BBP-418, in people with limb girdle muscular dystrophy type 2I (LGMD2I), a rare genetic condition that causes progressive muscle weakness. The drug aims to fix a molecular defect by helping a faulty enzyme work better. The trial includes bot…

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 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 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 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 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 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 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 investigates whether a painless fluorescent light exam can help find early warning signs of oral cancer in adults. Participants complete a health questionnaire and receive a standard oral exam plus a fluorescence scan. The goal is to see if this simple, non-invasive to…

This study explores whether weekly music and movement sessions are practical and enjoyable for children aged 6 to 18 with myotonic dystrophy type 1 (DM1). Over 10 weeks, participants attend 45-minute music classes, undergo physical and cognitive tests, and provide biological samp…

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 study follows adults with pathogenic variants in the anoctamin 5 gene, which causes a form of limb-girdle muscular dystrophy. Over three years, researchers will use whole-body MRI to measure changes in muscle fat content, and questionnaires to track fatigue and quality of li…

This study aims to describe the pattern of muscle involvement in people with limb girdle muscular dystrophy caused by mutations in the anoctamin 5 gene. Researchers will collect and analyze MRI scans from 200 participants to see which muscles are affected and how much fat replace…

This study is looking at how magnetic resonance imaging (MRI) and spectroscopy can be used to detect and track changes in the muscles of people with facioscapulohumeral muscular dystrophy (FSHD). The goal is to identify reliable biomarkers—measurable indicators of disease activit…

This study looks at how myotonic dystrophy types 1 and 2 affect the brain. About 100 adults aged 30-65 will have MRI scans, thinking and movement tests, and blood draws. Some will also have a spinal tap. The goal is to find brain changes that could be used as markers in future tr…

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 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 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 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 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 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…