Mitochondrial disease: who works on it

One card per institution. Pick a target or a country to narrow the list.

• All targets
• NRF2 0
• BDNF 0
• BRD4 0
• JAK 0
• LRRK2 0
• MAPK 0
• NTRK 0
• PINK1 0
• SNCA 0
• STING 0
• TDP-43 0

24 of 218 institutions, ordered by recent publications and open trials. This is not a ranking of quality.

Funded research projects that name this disease in their title, terms or summary and have not ended yet: who is funded, where, how much and until when. Organisations only; the funder's page has the details.

• NIH NIA · R01

  Ultra High-Resolution Multimodal Cross-Disorder Atlas of Neurodegenerative Dementias

  University of California Los Angeles· Los Angeles, United States· US$674,513 awarded in fiscal year 2026· until May 2031

• NIH NICHD · F30

  Unraveling the Role of Microglial Innate Immune Activation in Primary Mitochondrial Disease

  University of California, San Diego· La Jolla, United States· US$43,770 awarded in fiscal year 2026· until Sept 2030

• NIH NINDS · R03

  Unraveling the roles of SLC25A22 and SLC25A46 in mitochondrial metabolism and neurological disorders

  Oklahoma Medical Research Foundation· Oklahoma City, United States· US$170,500 awarded in fiscal year 2026· until Aug 2027

• NIH NIAMS · R21

  Modulating ER stress-induced lipotoxicity to ameliorate mitochondrial myopathy

  Weill Medical Coll of Cornell Univ· New York, United States· US$396,206 awarded in fiscal year 2026· until Aug 2028

• NIH NINDS · R56

  Investigating Citric Acid Cycle Perturbations in Complex I Deficient Mitochondrial Encephalopathy

  University of South Carolina at Columbia· Columbia, United States· US$372,500 awarded in fiscal year 2026· until Aug 2027

• European Commission (Horizon Europe) · HORIZON-TMA-MSCA-PF-EF

  Dynamic Mapping of Mitochondrial Translation Initiation and Elongation (DYNAMITE)

  Karolinska Institutet· Stockholm, Sweden· EU contribution €236,340· until May 2029· 2 countries

  The disease is named only in the funder's project summary, not in the title.

• European Commission (Horizon Europe) · HORIZON-ERC

  Regulatory Mechanisms of the Mitochondrial Control Region (MITOLOOP)

  Goeteborgs Universitet· Goeteborg, Sweden· EU contribution €2,499,862· until Jan 2032

  The disease is named only in the funder's project summary, not in the title.

• European Commission (Horizon Europe) · HORIZON-TMA-MSCA-PF-EF

  Functional Characterization of Redox Switches in Mitochondrial Metabolism (MitoSwitch)

  Karolinska Institutet· Stockholm, Sweden· EU contribution €252,180· until Dec 2028

• European Commission (Horizon Europe) · HORIZON-ERC

  Cell-Cell Communication by Mitochondrial Intercellular Traffic (MINTRAF)

  Centro Nacional de Investigaciones Cardiovasculares Carlos Iii (F.s.p.)· Madrid, Spain· EU contribution €2,455,167· until Aug 2030

  The disease is named only in the funder's project summary, not in the title.

• European Commission (Horizon Europe) · HORIZON-ERC

  Mitochondrial Strategies in Ferroptotic Cell Death (Mito-FerroQuest)

  Helmholtz Zentrum Muenchen Deutsches Forschungszentrum Fuer Gesundheit und Umwelt Gmbh· Neuherberg, Germany· EU contribution €1,500,000· until Dec 2029

  The disease is named only in the funder's project summary, not in the title.

10 of 166 running projects, newest first. Listed amounts together: US$78.4m + €13.9m.

Sources: NIH RePORTER (U.S. National Institutes of Health, public domain) and CORDIS (European Commission, CC BY 4.0). Changes: filtered by disease, organisations matched to ROR.

Terminated, withdrawn and suspended trials with the reason the sponsor gave in the registry, quoted word for word.

• Terminated

  An Open-label Extension Safety Study of MELAS Patients Who Completed TIS6463-203 (PRIZM)

  NCT06961344· Tisento Therapeutics· Updated 6 Nov 2026

  “Terminated based on results from the parent study, which did not meet its primary or secondary efficacy endpoints. The decision was not related to a safety.”Registry text, quoted unchanged. Source

• Terminated

  A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy

  NCT04378075· PTC Therapeutics· Updated 31 Mar 2026

  “Sponsor decision.”Registry text, quoted unchanged. Source

• Terminated

  A Study to Evaluate ASP0367 in Participants With Primary Mitochondrial Myopathy

  NCT04641962· Astellas Pharma Inc· Updated 3 Jul 2025

  “Due to failure to meet the pre-specified criteria for efficacy”Registry text, quoted unchanged. Source

• Withdrawn

  A First in Human Study to Evaluate the Safety of Infusion of MNV-BM-PLC (Autologous CD34+ Cells Enriched With Placenta Derived Allogeneic Mitochondria) in Patients With Primary Mitochondrial Diseases Associated With Mitochondrial DNA Mutation or Deletion

  NCT04548843· Minovia Therapeutics Ltd.· Updated 22 Jun 2025

  “No recruitment”Registry text, quoted unchanged. Source

• Suspended

  The KHENERGYC Study

  NCT04846036· Khondrion BV· Updated 10 Jan 2025

  “Strategic company decision - not related to safety concerns”Registry text, quoted unchanged. Source

• Terminated

  Gene Therapy Clinical Trial for the Treatment of Leber's Hereditary Optic Neuropathy Associated With ND1 Mutations

  NCT05820152· Neurophth Therapeutics Inc· Updated 20 Sept 2024

  “Due to the sponsor circumstances and external reasons”Registry text, quoted unchanged. Source

• Terminated

  An Open Label, Long Term Safety Study of REN001 in Primary Mitochondrial Myopathy Patients (Stride Ahead)

  NCT05267574· Reneo Pharma Ltd· Updated 28 May 2024

  “Parent study failed to show therapeutic effect”Registry text, quoted unchanged. Source

• Withdrawn

  Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy

  NCT03866954· St George's, University of London· Updated 11 Oct 2023

  “Change of circumstances with Commercial partner”Registry text, quoted unchanged. Source

• Withdrawn

  A Study of the Efficacy and Safety of MT1621 in Thymidine Kinase 2 (TK2) Deficiency (Treatment naïve)

  NCT04581733· Zogenix MDS, Inc.· Updated 1 Sept 2023

  “Sponsor Decision”Registry text, quoted unchanged. Source

• Withdrawn

  ABI-009 (Nab-sirolimus) in Patients With Genetically-confirmed Leigh or Leigh-like Syndrome

  NCT03747328· Aadi Bioscience, Inc.· Updated 1 Feb 2022

  “IND withdrawn”Registry text, quoted unchanged. Source

Trials whose registry record says individual participant data (IPD) will be shared.

• Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

  NCT01793168· Sanford Health· Source

• Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome

  NCT04802707· Kenneth Myers, MD· Source

• Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies

  NCT03056794· University of Pittsburgh· Source

• The Precision Mito- Mito Map COMPASS Study

  NCT07856121· AI Agent Vault, Inc. d/b/a Precision Mito· Source

• An Open-Label Study of Continuation Treatment With Combination Pyrimidine Nucleosides in Patients With TK2 Deficiency

  NCT03845712· UCB BIOSCIENCES, Inc.· Source

• Enhancement of Quality of Work And Life

  NCT06573866· Radboud University Medical Center· Source

• Global Registry and Natural History Study for Mitochondrial Disorders

  NCT05554835· LMU Klinikum· Source

• Longitudinal Study of Mitochondrial Hepatopathies

  NCT01148550· Arbor Research Collaborative for Health· Source

• Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders

  NCT04322734· Southwest Autism Research & Resource Center· Source

• North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

  NCT01694940· Columbia University· Source

Find publications on this disease by a MeSH method term, for example a sequencing or imaging method.

• Single-Cell Analysis 5
• Organoids 4
• CRISPR-Cas Systems 10
• Gene Expression Profiling 4
• Sequence Analysis, RNA 3
• Whole Genome Sequencing 4
• Exome Sequencing 24
• Proteomics 11
• Metabolomics 6
• Mass Spectrometry 4
• Flow Cytometry 2
• Immunohistochemistry 1
• Positron-Emission Tomography 1
• Magnetic Resonance Imaging 42
• Machine Learning 5
• Deep Learning 2
• Cohort Studies 10
• Genome-Wide Association Study 1

See which targets of this disease your abstract mentions, and go to the people working on them.