Congenital muscular dystrophy

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 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 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 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 watches how children under 5 with LAMA2-related muscular dystrophy move and develop over two years. Researchers will test muscle function, swallowing, breathing, and collect blood samples. The goal is to learn more about the disease so future treatments can be tested e…

This study looks at whether levels of a protein called HMGB1 are different in people with LAMA2-related muscular dystrophy, a condition that causes severe muscle weakness. Researchers will measure HMGB1 in blood and muscle samples already collected from about 25 patients. The goa…

This study is for people with a rare genetic muscle condition called congenital myasthenic syndrome (CMS). It does not test any new drug or treatment. Instead, researchers will collect information from up to 100 participants over 4 visits to better understand how the disease affe…

This research study at Boston Children's Hospital is looking at the genes and proteins involved in congenital myopathies—rare muscle diseases that are present from birth. Researchers will analyze DNA from up to 4,000 participants, including patients and their family members, to f…

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 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 is a registry that collects health information from people in Switzerland who have neuromuscular disorders like SMA, DMD, BMD, and others. It aims to track symptoms, treatments, and outcomes over time to help researchers and doctors improve care. No new treatments are …

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 …