Condition

Mitochondrial Diseases clinical trials and research

• 17Clinical trials
• 7NIH research projects
• 15Countries

Newest Mitochondrial Diseases clinical trials

All recruiting trials (17)

• Metabolic and Functional Study of γδ T Cells in Critically Ill Patients

  Researchers will look at how γδ T cells behave in severely ill patients, including those with sepsis, to see how their metabolism and function change.

  Recruiting Union Hospital, Tongji Medical College, Huazhong University of Science and Technology · Wuhan, Outside of the US · NCT07680816

• Open-label extension to test KL1333 long-term safety and benefit for primary mitochondrial disease

  This extension study will see if KL1333 can be safely used long-term and whether it helps reduce fatigue and improve daily living in adults with primary mitochondrial disease who previously took KL1333 or placebo.

  Recruiting at 23 sites Phase 2 Pharming Technologies B.V. · Akron, Ohio and 22 other locations · NCT07514338

• One-leg exercise training to improve muscle energy and function in adults with mitochondrial myopathy

  This project tests whether a short program of one-leg high-intensity interval exercise changes muscle energy production and molecular signals in adults with mitochondrial myopathy compared with healthy adults.

  Recruiting University of Copenhagen · Copenhagen · NCT07450690

• Using transcriptomic analysis to diagnose mitochondrial diseases

  This study is testing a new way to diagnose mitochondrial diseases by looking at gene activity in patients' cells to help those who haven't been diagnosed yet.

  Recruiting at 2 sites Centre Hospitalier Universitaire de Nice · Nice, Alpes-maritimes and 1 other locations · NCT06621732

• Observing the natural history of mitochondrial diseases

  This study is tracking 400 people with mitochondrial diseases and 100 healthy individuals over 10 years to see how the disease affects them and to help improve future diagnosis and treatment.

  Recruiting Neuroscience Research Australia · Randwick, New South Wales · NCT06504433

• Sonlicromanol for symptoms of primary mitochondrial disease due to the m.3243A>G mutation

  This will test whether taking sonlicromanol twice daily for one year can reduce fatigue and improve balance and leg strength in adults with the m.3243A>G mitochondrial mutation.

  Recruiting at 7 sites Phase 3 Khondrion BV · Boston, Massachusetts and 9 other locations · NCT06451757

• Transplantation of MNV-201 for treating Pearson Syndrome in children

  This study is testing a new cell therapy called MNV-201 to see if it can help children with Pearson Syndrome feel better and manage their symptoms.

  Recruiting Phase 2 Minovia Therapeutics Ltd. · Ramat Gan, Israel · NCT06017869

• Understanding how diabetes affects heart function

  This study looks at how diabetes affects heart function by testing heart tissue from patients with heart failure and type 2 diabetes to learn more about the connection between the two conditions.

  Recruiting Heinrich-Heine University, Duesseldorf · Düsseldorf · NCT05958706

• Effects of passive exercise on mitochondrial diseases

  This study is testing how different types of exercise, including passive exercise, affect people with mitochondrial diseases compared to healthy individuals.

  Recruiting Phase 1 Children's Hospital of Philadelphia · Philadelphia, Pennsylvania · NCT05569122

• Global registry for mitochondrial disorders

  This study is creating a global database for mitochondrial disorders to help understand these diseases better and improve future treatments for patients.

  Recruiting at 34 sites LMU Klinikum · Innsbruck and 33 other locations · NCT05554835

• Using multi-omics to diagnose mitochondrial diseases

  This study is testing a new way to diagnose mitochondrial diseases by looking closely at RNA from muscle and skin samples of patients who have had unclear genetic test results.

  Recruiting at 6 sites Centre Hospitalier Universitaire de Nice · Nice, CHU de NICE and 8 other locations · NCT04920812

• Treatment for Mitochondrial Depletion Syndrome in Children

  This study is testing if a new treatment can help children with Mitochondrial Depletion Syndrome feel better and improve their brain function.

  Recruiting Phase 2 McGill University Health Centre/Research Institute of the McGill University Health Centre · Montreal, Quebec · NCT04802707

• Identifying metabolic and immune biomarkers in neurological disorders

  This study is trying to see if measuring mitochondrial function can help identify children with neurological disorders like autism and epilepsy.

  Recruiting at 2 sites Southwest Autism Research & Resource Center · Phoenix, Arizona and 1 other locations · NCT04322734

• 18-month developmental follow-up after mitochondrial donation

  This project looks to see if children born after mitochondrial donation show typical neurodevelopment at 18 months using a standard developmental test.

  Recruiting Newcastle-upon-Tyne Hospitals NHS Trust · Newcastle upon Tyne, Tyne & Wear · NCT04113447

• Measuring oxygen levels in muscle for mitochondrial myopathy

  This study is testing a new device that measures oxygen levels in muscles during exercise to see if it can help understand how mitochondrial myopathy affects patients and improve future treatments.

  Recruiting Phase 1 Children's Hospital of Philadelphia · Philadelphia, Pennsylvania · NCT04086329

• Registry for patients with rare diseases

  This study is creating a central registry for people with rare diseases to help connect them with researchers and improve treatments.

  Recruiting Sanford Health · Sioux Falls, South Dakota · NCT01793168

• Registry and biorepository for patients with mitochondrial disorders

  This study is creating a database and collection of samples from people with mitochondrial disorders to help researchers learn more about these conditions and improve treatments.

  Recruiting at 17 sites Columbia University · San Diego, California and 16 other locations · NCT01694940

NIH-funded research (7)

Early-stage science funded by the US National Institutes of Health. Most of these projects don't enroll patients, but they show what is being worked on.

• Emerging therapies for rare maternal mitochondrial diseases with shared causes

  A basket clinical trial will test new drug candidates for two ultra-rare mitochondrial diseases (MELAS and LHON-Plus) that share the same underlying energy-making problem in people who could be affected.

  NIH research George Washington University · Washington, United States · NIH-11536511

• Drosophila models to study human mitochondrial diseases

  A scientist at Harvard Medical School is creating fly-based tools to study how mitochondrial problems cause human diseases.

  NIH research Harvard Medical School · Boston, United States · NIH-11384513

• First MTATP6 mitochondrial disease mouse model and AAV-based gene therapy approach

  A new grant aims to create a mouse model of MTATP6 mitochondrial disease and test an AAV-based gene therapy approach to treat it.

  NIH research Univ of Massachusetts Med Sch Worcester · Worcester, United States · NIH-11370017

• New treatments for maternally inherited mitochondrial diseases MELAS and LHON-Plus

  New drug candidates aim to boost cellular energy for people with MELAS or LHON-Plus, rare maternally inherited mitochondrial diseases.

  NIH research George Washington University · Washington, United States · NIH-11191529

• Developing a gene therapy for mitochondrial diseases using a mouse model

  This study is working on a new way to help people with mitochondrial diseases caused by a specific gene problem by using a special virus to deliver a healthy version of that gene, which could lead to better treatments for those affected.

  NIH research Univ of Massachusetts Med Sch Worcester · Worcester, United States · NIH-11109888

• New treatments for rare mitochondrial diseases passed from mother to child

  This study is looking for new treatment options for people with two rare inherited mitochondrial diseases, MELAS and LHON-Plus, which cause serious health issues, and it aims to see if a shared treatment can help both groups of patients feel better.

  NIH research George Washington University · Washington, United States · NIH-10915696

• Using fruit flies to study human mitochondrial diseases

  This study is looking at how mitochondrial diseases work by using fruit flies to learn more about the problems they cause, which can lead to muscle weakness and organ issues, and it aims to find new ways to detect and treat these conditions.

  NIH research Harvard Medical School · Boston, United States · NIH-10895460

Related topics

Quick answers

How many Mitochondrial Diseases clinical trials are recruiting right now?

17, as of November 12, 2026. We update this list each time we refresh our data from ClinicalTrials.gov.

Where are these trials running?

In 15 countries. The most sites are in United States (7 trials), Germany (4 trials), France (4 trials), Italy (3 trials), Denmark (3 trials). Each study page lists its sites and which ones are recruiting.

What phases are they in?

Phase 2: 3, Phase 1: 2, Phase 3: 1. Trials with no phase listed are usually device, behavioural or observational studies.

How do I join one?

Open a study, check the "Is this trial a fit for you?" section, then contact the study team listed on the page. They will ask a few screening questions. Asking is free and does not commit you to anything. Talk it over with your doctor first.

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