MITOCHONDRIAL DISEASES

This study tests an experimental medicine called sonlicromanol in 220 adults with a specific genetic form of mitochondrial disease (m.3243A>G mutation). The goal is to see if it reduces fatigue and improves physical abilities like balance and leg strength compared to a placebo. P…

This study creates a registry and tissue bank for people with or suspected of having mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants to better understand these rare genetic diseases. No treatment is given; the goal i…

This study looks at how the body's energy use and immune system may be different in children with autism, epilepsy, brain tumors, or other brain conditions. Researchers will collect blood samples and do behavioral tests in 500 children up to age 17. The goal is to find patterns t…

This study looks at how exercise—both active (like cycling) and passive (using a special bed that gently moves the legs)—affects oxygen use in people with mitochondrial disease compared to healthy volunteers. Researchers will measure oxygen consumption, heart rate, and muscle ene…

This study looks at how diabetes changes the way heart cells use energy, which may lead to heart failure. Researchers will examine heart tissue and use imaging tests in 500 adults with heart failure, with or without type 2 diabetes. The goal is to better understand the disease an…

This study looks at how exercise training changes muscle cells in adults with mitochondrial myopathy, a disease that affects energy production in muscles. Researchers will compare a trained leg to an untrained leg in the same person, and also compare people with the disease to he…

This early-phase study is testing a new, minimally invasive nanosensor that measures oxygen levels in muscle tissue. Researchers want to see if it can tell the difference between people with mitochondrial myopathy and healthy volunteers. The goal is to develop a reliable tool to …

This study follows 500 adults (400 with mitochondrial disease and 100 healthy or other-disease controls) for up to 10 years. Researchers collect medical data and samples to build a biobank, aiming to better understand how the disease progresses and to improve future diagnosis and…