MITOCHONDRIAL DISEASES

This study tests whether the experimental drug sonlicromanol can reduce fatigue and improve physical abilities like balance and leg strength in adults with a specific genetic mitochondrial disease (m.3243A>G mutation). About 220 participants will receive either the drug or a plac…

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 looks at how exercise changes oxygen use in people with mitochondrial disease compared to healthy volunteers. Researchers will measure oxygen consumption and heart function during different types of exercise. The goal is to better understand the disease, not to test a …

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 metabolism and the immune system might be connected to brain development in children with autism, epilepsy, brain tumors, or other psychiatric conditions. Researchers will collect blood samples and do behavioral assessments from up to 500 children to find …

This study creates a registry and biorepository for people with or suspected of having mitochondrial disorders. Researchers will collect medical information and tissue samples from up to 1,000 participants to better understand these rare genetic diseases. No treatments or interve…

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…