Mitochondrial disease

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 phase 1 trial tests N-acetylcysteine (NAC), an antioxidant, in 18 adults with a specific mitochondrial disease caused by the m.3243A>G mutation and low brain glutathione levels. Participants take one of three daily doses (1800, 3600, or 5400 mg) for 3 months to find the safe…

This study is testing a small device called a nanosensor that measures oxygen levels in muscle tissue. The goal is to see if it can accurately assess mitochondrial function in people with mitochondrial myopathy compared to healthy volunteers. If it works, this sensor could become…

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 Phase 2 trial tests whether KL1333 can reduce fatigue and improve leg strength in adults with primary mitochondrial disease, a genetic condition that affects energy production. About 180 participants will receive either KL1333 or a placebo twice daily for 48 weeks. The study…

This observational study aims to better understand primary mitochondrial myopathy, a rare muscle disease. Researchers will follow 1300 patients and healthy controls, measuring muscle strength, balance, and daily function over time. The goal is to develop and validate tools to tra…

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 at the National Institutes of Health looks at how infections can worsen symptoms in people with mitochondrial disease, a group of disorders that affect energy production in cells. Researchers will evaluate participants' immune systems through blood tests, physical exam…

This study follows 400 people with mitochondrial disease and their household members to learn how infections affect them. Researchers will analyze blood samples and health records to find immune patterns linked to severe illness. The goal is to improve care and identify potential…

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 uses MRI brain scans to measure chemicals like glutathione in people with primary mitochondrial disease, a genetic disorder that affects energy production and can damage the brain. Researchers will compare 30 participants with the disease to healthy volunteers to see i…

This study looks at how mitochondrial diseases might weaken the immune system. Researchers will collect blood samples from 60 people with confirmed mitochondrial disorders and compare their immune cells and antibodies to healthy controls. The goal is to better understand these im…

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…

This study collects blood and skin samples from 100 people with primary mitochondrial diseases and healthy volunteers aged 3 to 85. Researchers will study how different mitochondrial mutations affect cell function and look for biomarkers. The samples will also help test a new the…