Clinical trials
Mitochondrial Diseases clinical trials
Below are recruiting mitochondrial diseases clinical trials, each written for real people, not researchers. We’re tracking 45 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT07514338RecruitingPhase 2
Long-term safety study of KL1333 for mitochondrial disease
This is a follow-up study for patients who completed a previous trial (FALCON) testing KL1333, an experimental medicine for primary mitochondrial disease—a condition where cells don't produce enough energy. The study tracks how safe and effective the treatment remains over time.
Akron, OhioAges 18 years+ - NCT04920812Recruiting
Testing multi-sample methods to diagnose mitochondrial muscle disease
This study looks for the cause of suspected mitochondrial diseases by combining multiple lab tests on muscle and skin samples, plus genetic testing results. If your current gene tests didn’t find an answer, this could help researchers learn what might be causing your condition.
Nice, CHU de NICEAges Any age - NCT04802707RecruitingPhase 2
Study drug for mitochondrial depletion disorder due to gene changes
This Phase 2 trial tests a treatment made from deoxynucleosides to help people with mitochondrial depletion disorder caused by certain gene changes. If you match the genetic diagnosis, the study may see whether the treatment improves symptoms or disease markers.
Montreal, QuebecAges 1 month–60 years - NCT06504433Recruiting
Natural history of mitochondrial diseases
This study follows people with mitochondrial disease over time to learn more about how the condition progresses. It may help researchers find better ways to manage and treat mitochondrial diseases in the future.
Randwick, New South WalesAges 18 years+ - NCT06451757RecruitingPhase 3
Sonlicromanol for chronic fatigue in primary mitochondrial disease
This trial tests a new medicine, sonlicromanol, to see if it can ease chronic fatigue and improve muscle function in people with a specific genetic condition called primary mitochondrial disease. If effective, it could offer a new treatment option to improve daily energy and quality of life.
Boston, MassachusettsAges 18 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 - 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 - NCT01694940Recruiting
Mitochondrial disease registry and sample collection study
This trial builds a large database and collection of lab results, and possibly tissue samples, from people with suspected or diagnosed mitochondrial conditions. It helps researchers learn more about these disorders and mitochondrial DNA changes, which may improve future diagnosis and treatments.
San Diego, CaliforniaAges Any age - 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 - NCT06450964Enrolling by invitation
Studying Mitochondrial Disease to Improve Genetic Counseling
This study aims to learn more about mitochondrial DNA diseases by building a group of people with these conditions. The information gathered may help doctors give better genetic counseling to families.
Hefei, AnhuiAges Any age - 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+ - NCT01803906Enrolling by invitation
Tissue sample study for suspected mitochondrial disorders
This study collects tissue samples to help researchers learn more about mitochondrial disorders—conditions related to how the body makes energy. It may help by improving genetic understanding for families who suspect an inherited cause.
New York, New YorkAges Any age - 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 - NCT04419870Recruiting
Acute infections in people with mitochondrial disease
This study looks at how people with mitochondrial disease respond to acute infections like COVID-19 or the flu. It aims to understand how infections affect the body and to find better ways to care for patients.
Bethesda, MarylandAges 2 months–115 years - NCT07450690Recruiting
Exercise training for muscle function in mitochondrial myopathy
This study tests whether exercise training can improve muscle function in adults with mitochondrial myopathy, a condition that affects how muscles produce energy. Participants will follow an exercise program to see if it helps their muscle strength and daily activities.
CopenhagenAges 18 years+ - 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 - 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 - NCT06621732Recruiting
Using RNA to diagnose mitochondrial disease
This trial checks if looking at RNA from blood or skin cells can help diagnose suspected mitochondrial disease. It may help people who have a genetic variant of uncertain significance thought to affect mitochondria.
Nice, Alpes-maritimesAges Any age - NCT06376279Enrolling by invitation
Genetic testing for metabolic diseases
This trial uses genetic testing to find the cause of suspected metabolic diseases, including some cases of epilepsy. It may help you get a clearer diagnosis and guide treatment.
Ages Any age - 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 - NCT05554835Recruiting
Mitochondrial disease registry and history study
This study collects information about people who have a suspected or confirmed mitochondrial disease. It aims to better understand how the disease looks over time, which can help future treatments.
InnsbruckAges 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+ - 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
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Mitochondrial Diseases trials by city
Studies with a site in or near these metro areas.
Mitochondrial Diseases trials by state
Studies with a site anywhere in these states.
Common questions
- Are there clinical trials for mitochondrial diseases?
- Yes. Clin2 currently lists 45 recruiting mitochondrial diseases 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 mitochondrial diseases 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 mitochondrial diseases 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.