Myotonic syndrome

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 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 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 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 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 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 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 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…