Thomsen and Becker disease

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 tests a new extended-release form of mexiletine (mexiletine PR) against the standard immediate-release version in people with non-dystrophic myotonias, a group of rare genetic disorders that cause muscle stiffness. About 24 adults aged 16 and older will take each versi…

This study follows 150 people aged 7 and older with RYR1-related muscle disorders for 3 to 5 years. Researchers will collect medical history, perform physical exams, and use questionnaires, activity trackers, and tests of heart, lung, and muscle function. The goal is to better un…

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 is looking at whether a molecule in the blood called miR-1 can help doctors understand how muscle diseases like Duchenne muscular dystrophy and myotonic dystrophy are progressing. Researchers will compare miR-1 levels in 104 people, including patients with different mu…