Mitochondrial Diseases
Information
- Disease name
- Mitochondrial Diseases
- Disease ID
- Description
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05162768 | Active, not recruiting | Phase 3 | Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD) | April 29, 2022 | October 2024 |
| NCT04846036 | Active, not recruiting | Phase 2 | The KHENERGYC Study | February 1, 2021 | December 1, 2025 |
| NCT02920671 | Active, not recruiting | Muscle OXPHOS and Nutrient Homeostasis | February 14, 2017 | June 30, 2024 | |
| NCT04689360 | Available | An Intermediate Size Expanded Access Protocol of Elamipretide | |||
| NCT04831424 | Completed | N/A | Mitochondrial Stress, Brain Imaging, and Epigenetics | June 12, 2018 | May 3, 2024 |
| NCT02284334 | Completed | Glycemic Index in Mitochondrial Disease | October 2014 | October 2016 | |
| NCT04378075 | Completed | Phase 2/Phase 3 | A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy | September 28, 2020 | December 27, 2023 |
| NCT00432744 | Completed | Phase 3 | Phase III Trial of Coenzyme Q10 in Mitochondrial Disease | January 2007 | May 2013 |
| NCT01252979 | Completed | Early Phase 1 | Ketones & Mitochondrial Heteroplasmy | December 2010 | December 2011 |
| NCT05012358 | Completed | Genomic Profiling of Mitochondrial Disease - Imaging Analysis for Precise Mitochondrial Medicine | May 1, 2022 | January 22, 2024 | |
| NCT03888716 | Completed | Phase 1 | A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease | March 18, 2019 | March 16, 2021 |
| NCT04580979 | Completed | Natural History Study of FDXR Mutation-related Mitochondriopathy | November 3, 2020 | August 17, 2023 | |
| NCT04165239 | Completed | Phase 2 | The KHENERGYZE Study | October 30, 2019 | May 24, 2022 |
| NCT02375438 | Completed | Nutritional Assessment in Mitochondrial Cytopathy | December 2014 | March 2016 | |
| NCT02398201 | Completed | Phase 2 | A Study of Bezafibrate in Mitochondrial Myopathy | September 2015 | March 23, 2017 |
| NCT02500628 | Completed | Phase 2 | Heart Rate Variability in Response to Metformin Challenge | July 2015 | February 2016 |
| NCT02809170 | Completed | N/A | The Effect of Arginine and Citrulline Supplementation on Endothelial Dysfunction in Mitochondrial Diseases | June 2016 | June 2019 |
| NCT02909400 | Completed | Phase 2 | The KHENERGY Study | September 2016 | July 2017 |
| NCT03177798 | Completed | Phase 2 | Mitochondria and Chronic Kidney Disease | August 1, 2017 | December 31, 2018 |
| NCT03213067 | Completed | Mitochondrial and Microbiota Relationship | April 11, 2017 | February 2, 2019 | |
| NCT03216252 | Completed | N/A | DNA QUANTIFICATION TECHNIQUE AS A INTERPRETATION TOOL IN MITOCHONDRIAL DISEASES | February 2, 2018 | September 30, 2020 |
| NCT03351998 | Completed | Phase 4 | Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity | February 22, 2018 | July 7, 2023 |
| NCT03384420 | Completed | Phase 1/Phase 2 | A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome | February 13, 2019 | March 9, 2021 |
| NCT03388528 | Completed | N/A | Low Residue Diet Study in Mitochondrial Disease | September 8, 2017 | February 7, 2019 |
| NCT03432871 | Completed | N/A | Nicotinamide Riboside and Mitochondrial Biogenesis | December 8, 2017 | December 31, 2022 |
| NCT03489421 | Completed | Mitochondria in HIV and Aging (MITO+) | December 15, 2018 | September 5, 2019 | |
| NCT04604548 | Completed | Phase 2 | The KHENEREXT Study | August 9, 2021 | June 1, 2023 |
| NCT03678740 | Completed | Diagnostic Odyssey Survey 2 | September 27, 2018 | August 2, 2019 | |
| NCT03832218 | Completed | N/A | Executive Function Disorders and Anxio-depressive Symptomatology in Children and Adolescents With Mitochondrial Pathologies | May 2, 2019 | February 27, 2020 |
| NCT03857880 | Completed | Identification of New Candidate Genes in Patients With Mitochondrial Disease by High Resolution Chromosome Analysis on DNA Chip | September 20, 2020 | March 20, 2022 | |
| NCT04594590 | Completed | Natural History Study of SLC25A46 Mutation-related Mitochondriopathy | November 3, 2020 | August 17, 2023 | |
| NCT04734626 | Enrolling by invitation | CrCest Study in Primary Mitochondrial Disease | May 25, 2021 | December 31, 2024 | |
| NCT06376279 | Enrolling by invitation | Genetic Diagnosis in Inborn Errors of Metabolism | April 29, 2008 | December 31, 2030 | |
| NCT01370447 | No longer available | EPI-743 for Mitochondrial Respiratory Chain Diseases | |||
| NCT06451757 | Not yet recruiting | Phase 3 | KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases | January 2, 2025 | July 2, 2027 |
| NCT04322734 | Not yet recruiting | Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders | July 1, 2024 | January 2026 | |
| NCT06450964 | Not yet recruiting | Establishment of Reproductive Cohort and Prediction Model of Genetic Counseling for Mitochondrial Genetic Diseases | September 1, 2024 | December 31, 2027 | |
| NCT06017869 | Recruiting | Phase 1 | Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-201 in Pediatric Patients With Pearson Syndrome | July 31, 2023 | December 2027 |
| NCT06080568 | Recruiting | Human Mitochondrial Stress-driven Obesity Resistance | October 20, 2023 | December 2025 | |
| NCT04086329 | Recruiting | Phase 1 | Validation of Oxygen Nanosensor in Mitochondrial Myopathy | January 17, 2023 | November 1, 2024 |
| NCT04226820 | Recruiting | N/A | Peripheral Vascular REactivity and Muscular Oxygenation in Diabetes Mellitus | February 1, 2020 | October 31, 2024 |
| NCT06292182 | Recruiting | N/A | Red Light Ptosis Proof-of-Concept | February 8, 2024 | November 30, 2025 |
| NCT04543968 | Recruiting | N/A | Clinical Study of Hydroxytyrosol (HT) in Mitochondrial Diseases | July 5, 2022 | December 31, 2025 |
| NCT06185790 | Recruiting | N/A | MItochondrial Diabetes LOw Carb- Diet Study | January 5, 2024 | December 31, 2024 |
| NCT06080594 | Recruiting | N/A | Exercise-mediated Rescue of Mitochondrial Dysfunctions Driving Insulin Resistance | August 2024 | December 2025 |
| NCT04802707 | Recruiting | Phase 2 | Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome | October 18, 2021 | June 30, 2026 |
| NCT06080581 | Recruiting | Mitochondrial Dysfunctions Driving Insulin Resistance | October 20, 2023 | December 2025 | |
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 | |
| NCT04920812 | Recruiting | MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases | March 7, 2022 | September 7, 2025 | |
| NCT01694940 | Recruiting | North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) | December 2010 | December 2025 | |
| NCT06051448 | Recruiting | Phase 1/Phase 2 | Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Primary Mitochondrial Disease (PMD). | September 22, 2023 | June 2024 |
| NCT05483738 | Recruiting | N/A | The Impact of Mitochondrial Dysfunction on Human Bone Cell Metabolism and Remodelling | February 1, 2020 | January 1, 2025 |
| NCT05554835 | Recruiting | Global Registry and Natural History Study for Mitochondrial Disorders | February 1, 2009 | December 2040 | |
| NCT05569122 | Recruiting | Phase 1 | Applying pGz in Mitochondrial Disease | March 22, 2023 | October 2024 |
| NCT05645874 | Recruiting | Reference Values of Intraepidermal Nerve Fiber Density in Children and Small Fiber Neuropathy in Neurometabolic and Neurodevelopmental Disorders in Children | January 1, 2022 | December 30, 2024 | |
| NCT05958706 | Recruiting | Mitochondrial Substrate Utilization in the Diabetic Human Heart | December 1, 2021 | December 2024 | |
| NCT01148550 | Suspended | Longitudinal Study of Mitochondrial Hepatopathies | August 18, 2010 | May 2029 | |
| NCT00060515 | Terminated | Phase 1 | RG2133 (2',3',5'-Tri-O-Acetyluridine) in Mitochondrial Disease | ||
| NCT02473445 | Terminated | Phase 2 | A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease | May 19, 2015 | March 6, 2017 |
| NCT03572114 | Unknown status | Imaging Neuromelanin and Iron in Dystonia/Parkinsonism | July 1, 2018 | July 1, 2021 | |
| NCT04758130 | Unknown status | N/A | Getting Global Rare Disease Insights Through Technology Study | August 7, 2020 | November 30, 2021 |
| NCT02348125 | Unknown status | Phase 1 | Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)? | March 2016 | June 2017 |
| NCT02053766 | Unknown status | N/A | Anesthesia in Patients With Mitochondrial Disease | January 10, 2014 | September 2022 |
| NCT00831948 | Unknown status | Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability. | December 2008 | ||
| NCT04113447 | Unknown status | Mitochondrial Donation: An 18 Month Outcome Study. | November 1, 2017 | January 1, 2022 | |
| NCT03866954 | Withdrawn | Phase 2 | Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy | November 2024 | December 2027 |
- MedGen concept unique identifier (MedGen Concept name)
- C0751651
- MedGen unique identifier (MedGen Concept name)
- 155901
- MeSH unique ID (MeSH (Medical Subject Headings))
- D028361