Clinical trials
Primary Mitochondrial Disease clinical trials
Below are recruiting primary mitochondrial disease clinical trials, each written for real people, not researchers. We’re tracking 16 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT06474104Recruiting
Blood and skin sample collection for mitochondrial disease
This study collects blood and skin samples from people with primary mitochondrial disease and from healthy volunteers. The samples will help researchers better understand these diseases and develop future treatments.
Ramat Gan, IsraelAges 3–85 - NCT06890520Recruiting
Brain chemistry study for mitochondrial disease
This study looks at brain chemicals in people with primary mitochondrial disease using an MRI scan. It aims to understand how the disease affects the brain and may help guide future treatments.
Philadelphia, PennsylvaniaAges 8–75 - NCT05250375Recruiting
Study of mitochondrial muscle diseases over time
This natural history study follows children and adults with suspected or confirmed mitochondrial myopathy to better understand symptoms and how the condition changes. It may also include healthy participants to compare test results and improve future treatments.
Philadelphia, PennsylvaniaAges birth–100 years - NCT05569122RecruitingPhase 1
Studying an MRI contrast method in mitochondrial muscle disease
This Phase 1 study tests a special MRI approach (using a contrast agent) to better measure changes in muscles in people with mitochondrial diseases. It also includes some healthy volunteers and other critically ill patients to compare results and check safety.
Philadelphia, PennsylvaniaAges 10–60 - NCT05650229RecruitingPhase 2
Study of KL1333 for adult mitochondrial disease fatigue and weakness
This Phase 2 trial studies whether KL1333 improves chronic fatigue and muscle weakness in adults with a confirmed mitochondrial genetic disease. You may be eligible if you have persistent fatigue for at least 3 months and signs of muscle involvement, and can safely follow study requirements.
Orange, CaliforniaAges 18 years+ - NCT06451757RecruitingPhase 3
A trial of sonlicromanol for mitochondrial disease
This trial tests a new medicine, sonlicromanol, for people with a specific type of mitochondrial disease (caused by the m.3243A>G mutation) who also have chronic fatigue and muscle weakness. The goal is to see if it helps improve symptoms and daily function.
Boston, MassachusettsAges 18 years+ - NCT04734626Enrolling by invitation
Leg MRI study for mitochondrial muscle weakness
This study uses an MRI scan of the lower leg to look for signs of muscle problems in people with suspected or confirmed mitochondrial disease, and compares them with healthy volunteers. Participants will lie still in the MRI and do a short, mild exercise during the scan to help the researchers see how muscles work.
Philadelphia, PennsylvaniaAges 7–75 - NCT01793168Recruiting
Rare disease registry and history study
This study keeps a registry (a structured list) of people with rare diseases and may also track how the condition changes over time. It can help researchers better understand rare illnesses and find gaps in care, which may improve future treatments.
Sioux Falls, South DakotaAges Any age - NCT04086329RecruitingPhase 1
Testing an oxygen sensor during exercise in muscle disease
This early (Phase 1) study checks whether a tiny oxygen-sensing device works reliably while people with mitochondrial muscle disease (and some healthy volunteers) ride a stationary bike. The goal is to see if the sensor can measure oxygen use during exercise and help future monitoring or research.
Philadelphia, PennsylvaniaAges 18–65 - NCT06065852Recruiting
National registry for rare kidney diseases
This study creates a registry to collect health information from people with rare kidney diseases. It aims to improve understanding and future treatments by tracking patient experiences.
Bristol, South WestAges Any age - NCT06819683RecruitingPhase 1
Testing a new oxygen sensor in people with and without mitochondrial myopathy
This study tests a tiny sensor that measures oxygen levels in muscle. It will help researchers understand how oxygen is used during exercise. If you have mitochondrial myopathy or are a healthy volunteer, you might be able to join.
Philadelphia, PennsylvaniaAges 18–65 - NCT06213103Recruiting
Study of immune problems in mitochondrial disease
This study looks at immune system problems in people with mitochondrial diseases. It involves a blood draw to understand how the immune system works in these patients.
BordeauxAges 6 years+ - NCT03445585Recruiting
Biobank study for primary sclerosing and primary biliary cholangitis
This study collects and stores samples from people with PSC (primary sclerosing cholangitis), PBC (primary biliary cholangitis), and some related liver conditions. Researchers use these samples to better understand these diseases and support future research.
Rochester, MinnesotaAges 18–85 - NCT05305287RecruitingPhase 4
Measuring liver energy use in people with diabetes and fatty liver disease
This study looks at how the liver uses energy (mitochondria) in people with type 2 diabetes and fatty liver disease. By understanding this, researchers may find better ways to treat liver problems.
San Antonio, TexasAges 18–80 - NCT07478172Recruiting
Electrical muscle stimulation exercise for neuromuscular disease
This study tests whether whole-body electrical muscle stimulation (using small electrodes on the skin) can help adults with certain neuromuscular diseases exercise and improve muscle strength. It may be an option if you can stand for about 15 minutes at a time and have some muscle strength left.
Columbia, MissouriAges 18 years+ - NCT07205874Recruiting
Finding PBC early in people with positive AMA
This study looks for early signs of Primary Biliary Cholangitis in people who have a positive AMA blood test but normal liver enzyme levels. It aims to find the disease before it causes symptoms.
MadridAges 18–80
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Primary Mitochondrial Disease trials by city
Studies with a site in or near these metro areas.
Primary Mitochondrial Disease trials by state
Studies with a site anywhere in these states.
Common questions
- Are there clinical trials for primary mitochondrial disease?
- Yes. Clin2 currently lists 16 recruiting primary mitochondrial disease studies from the U.S. registry, each rewritten for real people, not researchers, so you can see what it’s testing and who it’s for.
- How do I know if I qualify for a primary mitochondrial disease trial?
- Each study lists its eligibility criteria — rules about age, diagnosis, and prior treatments. On every Clin2 trial page we explain these in words written for real people and offer a short, optional pre-screen for a fit read. The study team makes the final decision.
- Does it cost anything to join a primary mitochondrial disease trial?
- Using Clin2 is always free. Many trials cover the cost of the study treatment and related visits; some reimburse travel. The study team explains exactly what’s covered before you decide.
Related conditions
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov. Talk with your doctor about whether a specific trial is right for you.