| Not Yet Recruiting | Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial NCT07514338 | Pharming Technologies B.V. | Phase 2 |
| Recruiting | KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Disease NCT06451757 | Khondrion BV | Phase 3 |
| Recruiting | Exercise Training Effects on Muscle Function in Adults With Mitochondrial Myopathy NCT07450690 | University of Copenhagen | N/A |
| Recruiting | Combating the Diagnostic Impasse in Mitochondrial Diseases: a Transcriptomic Approach in Fibroblasts and Blood NCT06621732 | Centre Hospitalier Universitaire de Nice | N/A |
| Withdrawn | Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyop NCT03866954 | St George's, University of London | Phase 2 |
| Recruiting | Enhancement of Quality of Work And Life NCT06573866 | Radboud University Medical Center | N/A |
| Completed | Exercise-mediated Rescue of Mitochondrial Dysfunctions Driving Insulin Resistance NCT06080594 | Rigshospitalet, Denmark | N/A |
| Recruiting | Digital Health Technology for People With Mitochondrial Disease NCT06535646 | Neuroscience Research Australia | N/A |
| Enrolling By Invitation | Establishment of Reproductive Cohort and Prediction Model of Genetic Counseling for Mitochondrial Genetic Dise NCT06450964 | Anhui Medical University | — |
| Recruiting | The Natural History of Mitochondrial Diseases NCT06504433 | Neuroscience Research Australia | — |
| Unknown | Red Light Ptosis Proof-of-Concept NCT06292182 | University College, London | N/A |
| Completed | MItochondrial Diabetes LOw Carb- Diet Study NCT06185790 | Radboud University Medical Center | N/A |
| Recruiting | Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders NCT04322734 | Southwest Autism Research & Resource Center | — |
| Completed | Mitochondrial Dysfunctions Driving Insulin Resistance NCT06080581 | Rigshospitalet, Denmark | — |
| Completed | Human Mitochondrial Stress-driven Obesity Resistance NCT06080568 | Rigshospitalet, Denmark | — |
| Completed | Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Pr NCT06051448 | Children's Hospital of Philadelphia | Phase 1 / Phase 2 |
| Recruiting | Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells En NCT06017869 | Minovia Therapeutics Ltd. | Phase 2 |
| Recruiting | Applying pGz in Mitochondrial Disease NCT05569122 | Children's Hospital of Philadelphia | Phase 1 |
| Recruiting | Validation of Oxygen Nanosensor in Mitochondrial Myopathy NCT04086329 | Children's Hospital of Philadelphia | Phase 1 |
| Completed | Clinical Study of Hydroxytyrosol (HT) in Mitochondrial Diseases NCT04543968 | Hong Kong Children's Hospital | N/A |
| Completed | Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine NCT05012358 | Mayo Clinic | — |
| Completed | Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nucl NCT05162768 | Stealth BioTherapeutics Inc. | Phase 3 |
| Recruiting | MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases NCT04920812 | Centre Hospitalier Universitaire de Nice | — |
| Completed | Reference Values of Intraepidermal Nerve Fiber Density in Children and Small Fiber Neuropathy in Neurodevelopm NCT05645874 | Heinrich-Heine University, Duesseldorf | — |
| Recruiting | Mitochondrial Substrate Utilization in the Diabetic Human Heart NCT05958706 | Heinrich-Heine University, Duesseldorf | — |
| Recruiting | Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome NCT04802707 | Kenneth Myers, MD | Phase 2 |
| Completed | The KHENEREXT Study NCT04604548 | Khondrion BV | Phase 2 |
| Enrolling By Invitation | CrCest Study in Primary Mitochondrial Disease NCT04734626 | Children's Hospital of Philadelphia | — |
| Suspended | The KHENERGYC Study NCT04846036 | Khondrion BV | Phase 2 |
| Completed | Natural History Study of FDXR Mutation-related Mitochondriopathy NCT04580979 | State University of New York at Buffalo | — |
| Completed | Natural History Study of SLC25A46 Mutation-related Mitochondriopathy NCT04594590 | State University of New York at Buffalo | — |
| Terminated | A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With NCT04378075 | PTC Therapeutics | Phase 2 / Phase 3 |
| Completed | Identification of New Candidate Genes in Patients With Mitochondrial Disease by High Resolution Chromosome Ana NCT03857880 | Centre Hospitalier Universitaire de Nice | — |
| Unknown | Getting Global Rare Disease Insights Through Technology Study NCT04758130 | M.A.G.I.C. Clinic LTD | N/A |
| Active Not Recruiting | The Impact of Mitochondrial Dysfunction on Human Bone Cell Metabolism and Remodelling NCT05483738 | Aalborg University Hospital | N/A |
| Unknown | Peripheral Vascular REactivity and Muscular Oxygenation in Diabetes Mellitus NCT04226820 | University Ghent | N/A |
| Completed | The KHENERGYZE Study NCT04165239 | Khondrion BV | Phase 2 |
| Completed | Executive Function Disorders and Anxio-depressive Symptomatology in Children and Adolescents With Mitochondria NCT03832218 | University Hospital, Angers | N/A |
| Completed | A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Dise NCT03888716 | Abliva AB | Phase 1 |
| Completed | A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients NCT03384420 | Minovia Therapeutics Ltd. | Phase 1 / Phase 2 |
| Completed | Mitochondria in HIV and Aging (MITO+) NCT03489421 | University of Colorado, Denver | — |
| Completed | Diagnostic Odyssey Survey 2 NCT03678740 | University of South Florida | — |
| Unknown | Imaging Neuromelanin and Iron in Dystonia/Parkinsonism NCT03572114 | University College, London | — |
| Completed | Mitochondrial Stress, Brain Imaging, and Epigenetics NCT04831424 | Columbia University | N/A |
| Completed | Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity NCT03351998 | University of Kansas Medical Center | Phase 4 |
| Completed | DNA QUANTIFICATION TECHNIQUE AS A INTERPRETATION TOOL IN MITOCHONDRIAL DISEASES NCT03216252 | Centre Hospitalier Universitaire de Nice | N/A |
| Completed | Nicotinamide Riboside and Mitochondrial Biogenesis NCT03432871 | Cambridge University Hospitals NHS Foundation Trust | N/A |
| Recruiting | Mitochondrial Donation: An 18 Month Outcome Study. NCT04113447 | Newcastle-upon-Tyne Hospitals NHS Trust | — |
| Completed | Low Residue Diet Study in Mitochondrial Disease NCT03388528 | Newcastle University | N/A |
| Completed | Mitochondria and Chronic Kidney Disease NCT03177798 | Vanderbilt University Medical Center | Phase 2 |
| Completed | Mitochondrial and Microbiota Relationship NCT03213067 | Newcastle University | — |
| Completed | Muscle OXPHOS and Nutrient Homeostasis NCT02920671 | University of Pennsylvania | — |
| Completed | The KHENERGY Study NCT02909400 | Khondrion BV | Phase 2 |
| Completed | The Effect of Arginine and Citrulline Supplementation on Endothelial Dysfunction in Mitochondrial Diseases NCT02809170 | Tawam Hospital | N/A |
| Unknown | Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)? NCT02348125 | Drexel University | Phase 1 |
| Completed | A Study of Bezafibrate in Mitochondrial Myopathy NCT02398201 | Newcastle-upon-Tyne Hospitals NHS Trust | Phase 2 |
| Completed | Heart Rate Variability in Response to Metformin Challenge NCT02500628 | Woodinville Psychiatric Associates | Phase 2 |
| Terminated | A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Ca NCT02473445 | Amgen | Phase 2 |
| Completed | Nutritional Assessment in Mitochondrial Cytopathy NCT02375438 | Insel Gruppe AG, University Hospital Bern | — |
| Completed | Glycemic Index in Mitochondrial Disease NCT02284334 | Children's Hospital of Philadelphia | — |
| Terminated | Anesthesia in Patients With Mitochondrial Disease NCT02053766 | The University of Texas Health Science Center, Houston | N/A |
| Recruiting | North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) NCT01694940 | Columbia University | — |
| Completed | Ketones & Mitochondrial Heteroplasmy NCT01252979 | The University of Texas Health Science Center, Houston | EARLY_Phase 1 |
| Suspended | Longitudinal Study of Mitochondrial Hepatopathies NCT01148550 | Arbor Research Collaborative for Health | — |
| Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford NCT01793168 | Sanford Health | — |
| Recruiting | Global Registry and Natural History Study for Mitochondrial Disorders NCT05554835 | LMU Klinikum | — |
| Unknown | Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability. NCT00831948 | Centre Hospitalier Universitaire de Nice | — |
| Enrolling By Invitation | Genetic Diagnosis in Inborn Errors of Metabolism NCT06376279 | Region Stockholm | — |
| Completed | Phase III Trial of Coenzyme Q10 in Mitochondrial Disease NCT00432744 | University of Florida | Phase 3 |
| Available | An Intermediate Size Expanded Access Protocol of Elamipretide NCT04689360 | Stealth BioTherapeutics Inc. | — |
| Terminated | RG2133 (2',3',5'-Tri-O-Acetyluridine) in Mitochondrial Disease NCT00060515 | Repligen Corporation | Phase 1 |
| No Longer Available | EPI-743 for Mitochondrial Respiratory Chain Diseases NCT01370447 | PTC Therapeutics | — |