Mitochondrial diseases

This study is for people who completed a previous trial of KL1333 (napazimone) for primary mitochondrial disease. It will test the drug's long-term safety and whether it helps with fatigue and daily activities. About 140 participants will take the pill twice daily for an extended…

This early-stage study tests a small nanosensor placed under the skin in the forearm to measure oxygen levels in muscle, which reflects how well mitochondria are working. Researchers will compare results from 24 people—some with mitochondrial myopathy and some healthy—to see if t…

This study tests whether the drug sonlicromanol can reduce fatigue and improve physical abilities like balance and leg strength in adults with a specific genetic form of mitochondrial disease. About 220 participants will take either the drug or a placebo twice daily for 52 weeks.…

This study examines how a type of immune cell called gamma delta T cells adapt and function in critically ill patients, both with and without sepsis. Researchers will compare these cells in healthy people, non-septic ICU patients, and septic ICU patients. The goal is to understan…

This study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …

This study aims to find biological markers in the blood that may help explain brain development disorders like autism, epilepsy, and brain tumors. Researchers will compare children with and without these conditions to identify unique patterns. Up to 500 children will participate …

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 create a biobank, aiming to better understand how the disease progresses and to find ways to diagnose it ea…

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

This study looks at why diabetes can damage the heart even without clogged arteries. Researchers will examine heart tissue and use advanced imaging in 500 adults with heart failure, with or without type 2 diabetes. The goal is to find early warning signs and new treatment targets…

This study is creating a large registry and tissue bank for people with mitochondrial disorders. Researchers will collect medical information and samples from up to 1,000 participants, including those diagnosed with or suspected to have a mitochondrial disease. The goal is to gat…

This study looks at whether a special bed that gently moves your legs (passive exercise) can improve how the body uses oxygen in people with mitochondrial disease. Researchers will compare patients to healthy volunteers and also test the bed in children in the ICU. The goal is to…