21. Mitochondrial disease Clinical trials / Disease details
Clinical trials : 39 / Drugs : 42 - (DrugBank : 32) / Drug target genes : 47 - Drug target pathways : 67
| No. | TrialID | Date_ enrollment | Date_ registration | Public_title | Scientific_title | Condition | Intervention | Primary_ sponsor | Secondary_ sponsor | Recruitment_ Status | Inclusion_ agemin | Inclusion_ agemax | Inclusion_ gender | Target_ size | Phase | Countries |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NCT05650229 (ClinicalTrials.gov) | December 13, 2022 | 6/12/2022 | Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease | An Interventional, Randomised, Double-blind, Parallel-group, Placebo-controlled, Flexible-dose, Adaptive Study of the Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease | Primary Mitochondrial Disease | Drug: KL1333;Drug: Placebo | Abliva AB | NULL | Recruiting | 18 Years | N/A | All | 180 | Phase 2 | Denmark;United Kingdom |
| 2 | NCT05241262 (ClinicalTrials.gov) | December 1, 2022 | 3/2/2022 | Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels | A Multiple Ascending Phase 1 Dose Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels | Mitochondrial Disease | Drug: N-Acetylcysteine | Darryl C. De Vivo, MD | United States Department of Defense | Recruiting | 18 Years | 80 Years | All | 18 | Phase 1 | United States |
| 3 | NCT05218655 (ClinicalTrials.gov) | June 21, 2022 | 19/1/2022 | A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease | An Open-Label, Safety Study for Previously Treated Vatiquinone (PTC743) Subjects With Inherited Mitochondrial Disease | Inherited Mitochondrial Disease | Drug: Vatiquinone | PTC Therapeutics | NULL | Enrolling by invitation | N/A | N/A | All | 200 | Phase 3 | United States |
| 4 | NCT05162768 (ClinicalTrials.gov) | April 29, 2022 | 8/12/2021 | Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD) | A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects With Primary Mitochondrial Disease Resulting From Pathogenic Nuclear DNA Mutations (nPMD) NuPower | Mitochondrial Myopathies;Mitochondrial Pathology;Mitochondrial DNA Mutation;Mitochondrial Diseases;Mitochondrial DNA Deletion;Mitochondrial DNA Depletion;Mitochondrial Metabolism Defect;Mitochondrial Complex I Deficiency | Drug: Elamipretide;Drug: Placebo | Stealth BioTherapeutics Inc. | NULL | Recruiting | 18 Years | 70 Years | All | 130 | Phase 3 | United States;Australia;Germany;Hungary;Italy;Netherlands;New Zealand;Norway;Spain;United Kingdom |
| 5 | EUCTR2021-003907-16-NO (EUCTR) | 11/04/2022 | 11/01/2022 | Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects with Primary Mitochondrial Disease Resulting from Pathogenic Nuclear DNA Mutations (nPMD) | A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects with Primary Mitochondrial Disease Resulting from Pathogenic Nuclear DNA Mutations (nPMD) | Primary Mitochondrial Disease Resulting from Pathogenic Nuclear DNA Mutations (nPMD) MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: HLGT;Classification code 10052635;Term: Cytoplasmic disorders congenital;Level: HLT;Classification code 10052637;Term: Genetic mitochondrial abnormalities NEC;Level: PT;Classification code 10027710;Term: Mitochondrial myopathy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Musculoskeletal Diseases [C05] | Product Name: Elamipretide Product Code: MTP-131 INN or Proposed INN: ELAMIPRETIDE Other descriptive name: N/A | Stealth BioTherapeutics Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 130 | Phase 3 | United States;Hungary;Finland;Spain;Denmark;Australia;Netherlands;Germany;Norway;United Kingdom;Italy | ||
| 6 | JPRN-jRCT2011210075 | 22/03/2022 | 17/03/2022 | A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy | Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy (MIT-E) | Mitochondrial Disease with Refractory Epilepsy | Vatiquinone: 15 milligrams/kilogram (mg/kg) if body weight <13 kg, and 200 mg if body weight >=13 kg, administered orally, 3 times per day (TID) or up to 72 weeks Placebo: Vatiquinone-matching placebo, administered orally, TID for up to 24 weeks followed by vatiquinone 15 mg/kg if body weight <13 kg, and 200 mg if body weight >=13 kg, administered orally, TID for up to 48 weeks. | Vinay Penematsa | NULL | Recruiting | Not applicable | < 18age old | Both | 4 | Phase 2-3 | USA;UK;Italy;Spain;Japan |
| 7 | EUCTR2021-003907-16-ES (EUCTR) | 18/03/2022 | 25/01/2022 | Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects with Primary Mitochondrial Disease Resulting from Pathogenic Nuclear DNA Mutations (nPMD) | A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects with Primary Mitochondrial Disease Resulting from Pathogenic Nuclear DNA Mutations (nPMD) | Primary Mitochondrial Disease Resulting from Pathogenic Nuclear DNA Mutations (nPMD) MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: HLGT;Classification code 10052635;Term: Cytoplasmic disorders congenital;Level: HLT;Classification code 10052637;Term: Genetic mitochondrial abnormalities NEC;Level: PT;Classification code 10027710;Term: Mitochondrial myopathy;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Musculoskeletal Diseases [C05] | Product Name: Elamipretide Product Code: MTP-131 INN or Proposed INN: ELAMIPRETIDE Other descriptive name: N/A | Stealth BioTherapeutics Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 130 | Phase 3 | United States;Hungary;Finland;Spain;Denmark;Australia;Norway;Netherlands;Germany;United Kingdom;Italy | ||
| 8 | EUCTR2021-003907-16-HU (EUCTR) | 02/03/2022 | 04/01/2022 | Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects with Primary Mitochondrial Disease Resulting from Pathogenic Nuclear DNA Mutations (nPMD) | A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects with Primary Mitochondrial Disease Resulting from Pathogenic Nuclear DNA Mutations (nPMD) | Primary Mitochondrial Disease Resulting from Pathogenic Nuclear DNA Mutations (nPMD) MedDRA version: 20.0;Level: SOC;Classification code 10010331;Term: Congenital, familial and genetic disorders;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: HLGT;Classification code 10052635;Term: Cytoplasmic disorders congenital;Level: HLT;Classification code 10052637;Term: Genetic mitochondrial abnormalities NEC;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Musculoskeletal Diseases [C05] | Product Name: Elamipretide Product Code: MTP-131 INN or Proposed INN: ELAMIPRETIDE Other descriptive name: N/A | Stealth BioTherapeutics Inc. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 130 | Phase 3 | United States;Hungary;Finland;Spain;Denmark;Australia;Norway;Netherlands;Germany;United Kingdom;Italy | ||
| 9 | EUCTR2020-002100-39-ES (EUCTR) | 26/07/2021 | 09/02/2021 | A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy | Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy (MIT-E) - MIT-E | Genetically determined mitochondrial disease and associated refractory epilepsy MedDRA version: 20.0;Level: LLT;Classification code 10077953;Term: Refractory epilepsy;System Organ Class: 100000004852 MedDRA version: 20.0;Level: HLT;Classification code 10052637;Term: Genetic mitochondrial abnormalities NEC;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Vatiquinone Product Code: PTC743 INN or Proposed INN: VATIQUINONE Other descriptive name: EPI743; alpha-tocotrienol quinone | PTC THERAPEUTICS, INC. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 80 | Phase 2;Phase 3 | France;United States;Spain;Germany;United Kingdom;Italy | ||
| 10 | EUCTR2021-001268-58-HU (EUCTR) | 06/07/2021 | 21/03/2021 | Investigation of effects of cariprazine in patients with mitochondrial schizophrenia | Investigation of cellbiological effects of cariprazine in patients with mitochondrial schizophrenia | Mitochondrial disease associated schizophrenia MedDRA version: 20.0;Level: PT;Classification code 10039626;Term: Schizophrenia;System Organ Class: 10037175 - Psychiatric disorders;Therapeutic area: Psychiatry and Psychology [F] - Behavioral Disciplines and Activities [F04] | Trade Name: Reagila Product Name: Reagila | Semmelweis University, STIA-POC-2020 | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 10 | Phase 4 | Hungary | ||
| 11 | EUCTR2020-002100-39-IT (EUCTR) | 14/04/2021 | 04/06/2021 | A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy | Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy (MIT-E) - MIT-E | Genetically determined mitochondrial disease and associated refractory epilepsy MedDRA version: 20.0;Level: LLT;Classification code 10077953;Term: Refractory epilepsy;System Organ Class: 100000004852 MedDRA version: 20.0;Level: HLT;Classification code 10052637;Term: Genetic mitochondrial abnormalities NEC;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Vatiquinone Product Code: [PTC743] INN or Proposed INN: VATIQUINONE | PTC THERAPEUTICS INC. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 80 | Phase 2;Phase 3 | France;United States;Spain;Germany;United Kingdom;Italy;Sweden | ||
| 12 | NCT04846036 (ClinicalTrials.gov) | February 1, 2021 | 5/2/2021 | The KHENERGYC Study | A Randomized Placebo Controlled, Double-blind Phase II Study to Explore the Safety, Efficacy and Pharmacokinetics of Sonlicromanol in Children With Genetically Confirmed Mitochondrial Disease | Mitochondrial Diseases;Mitochondrial DNA tRNALeu(UUR) m.3243A | Drug: Sonlicromanol;Drug: Placebo | Khondrion BV | Julius Clinical;ProPharma Group;Europees Fonds voor Regionale Ontwikkeling (EFRO);Ardena;Certara | Recruiting | 0 Years | 17 Years | All | 24 | Phase 2 | Netherlands |
| 13 | EUCTR2020-003124-16-NL (EUCTR) | 12/01/2021 | 20/10/2020 | The KHENERGYC study: a placebo controlled, double-blind study to explore the safety, efficacy and pharmacokinetics of sonlicromanol in children with a mitochondrial disease. | A randomized placebo controlled, double-blind phase II study to explore the safety, efficacy and pharmacokinetics of sonlicromanol in children with genetically confirmed mitochondrial disease. | Genetically confirmed mitochondrial disease;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: Sonlicromanol Product Code: KH176 INN or Proposed INN: sonlicromanol Other descriptive name: KH176 | Khondrion B.V. | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 24 | Phase 2 | Netherlands | ||
| 14 | NCT04643249 (ClinicalTrials.gov) | November 10, 2020 | 13/11/2020 | Drug-drug Interaction Study of KL1333 in Healthy Subjects | A Phase I, Open-label, Fixed-sequence, Crossover, Drug-drug Interaction Study to Investigate the Inhibition Potential of KL1333 on CYP1A2, CYP2B6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, and CYP3A4 in Healthy Subjects | Mitochondrial Disease | Drug: KL1333;Drug: Flurbiprofen;Drug: Dextromethorphan;Drug: Bupropion;Drug: Midazolam injection;Drug: Omeprazole;Drug: Caffeine;Drug: Repaglinide | Abliva AB | NULL | Completed | 18 Years | 65 Years | All | 14 | Phase 1 | United Kingdom |
| 15 | NCT04378075 (ClinicalTrials.gov) | September 28, 2020 | 4/5/2020 | A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy | Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy | Mitochondrial Diseases;Drug Resistant Epilepsy;Leigh Disease;Leigh Syndrome;Mitochondrial Encephalopathy (MELAS);Pontocerebellar Hypoplasia Type 6 (PCH6);Alpers Disease;Alpers Syndrome | Drug: Vatiquinone;Other: Placebo | PTC Therapeutics | NULL | Active, not recruiting | N/A | 20 Years | All | 60 | Phase 2/Phase 3 | United States;Canada;France;Italy;Japan;Poland;Spain;Sweden;United Kingdom |
| 16 | EUCTR2018-001094-25-IT (EUCTR) | 12/09/2019 | 20/05/2021 | Clinical trial with Phenilbutirrate to reduce lactic acid in patients affected with Melas Syndrome and PHD deficency encephalopathy | Phenylbutyrate Therapy in Mitochondrial Disease with lactic acidosis: an opel label clinical trial in MELAS and PHD deficiency patients - PHEMI | Melas Syndrome and PDH deficency enchephalopathy MedDRA version: 20.0;Level: PT;Classification code 10053872;Term: MELAS syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders MedDRA version: 20.0;Level: LLT;Classification code 10062950;Term: Leigh syndrome;System Organ Class: 10010331 - Congenital, familial and genetic disorders;Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Trade Name: Feburane Product Name: pheburane Product Code: [A042917017] | FONDAZIONE IRCCS ISTITUTO NEUROLOGICO CARLO BESTA | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | 9 | Phase 2 | Italy | ||
| 17 | NCT03888716 (ClinicalTrials.gov) | March 18, 2019 | 19/3/2019 | A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease | A Phase Ia/Ib, Multiple-site Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of KL1333 After a Single and Multiple Ascending Oral Doses in Healthy Subjects and Patients With Primary Mitochondrial Disease | Mitochondrial Diseases;Mitochondrial Respiratory Chain Deficiencies;MELAS Syndrome;Mitochondrial Myopathies | Drug: KL1333;Drug: Placebo Oral Tablet | Abliva AB | NULL | Completed | 18 Years | 75 Years | All | 72 | Phase 1 | United Kingdom |
| 18 | JPRN-JMA-IIA00406 | 01/02/2019 | 18/01/2019 | Long-term, multicenter trial of SPP-004 in mitochondrial diseases(after confirmation trial) | Long-term, multicenter trial of SPP-004 in mitochondrial diseases(after confirmation trial) | Mitochondrial disease, involved mainly central nervous system | Intervention type:DRUG. Intervention1:SPP-004, Dose form:CAPSULE, Route of administration:ORAL, intended dose regimen:5-ALA HCl and SFC capsules are administered orally or by a feeding tube in accordance with doses and frequency of administration based on body weight at screening and each observation time during the period of treatment.If capsules cannot be swollen, the content should be dissolved at the time of administration.. Control intervention1:-, Intended dose regimen:-. | Saitama Medical University Hospital | NULL | Completed | >=9 MONTHS | No Limit | BOTH | 55 | Phase 3 | Japan |
| 19 | JPRN-JMA-IIA00358 | 30/06/2018 | 22/06/2018 | Multicenter trial of SPP-004 in mitochondrial diseases (confirmatory trial) | Multicenter trial of SPP-004 in mitochondrial diseases (confirmatory trial) | Mitochondrial disease, involved mainly central nervous system | Intervention type:DRUG. Intervention1:SPP-004, Dose form:CAPSULE, Route of administration:ORAL, intended dose regimen:Open period A capsule of each investigational drug (5-ALA HCl capsule (25 mg) and SFC capsule (39.22 mg)) is administered orally or by a feeding tube. If capsules cannot be swollen, the content should be dissolved at the time of administration. Double-blind period. Same dose in open period is administered orally or by a feeding tube. If capsules cannot be swollen, the content should be dissolved at the time of administration. Through the study treatment (open period and double-blind period), doses are based on the body weight at observation time during the treatment period.. Control intervention1:Placebo, Dose form:CAPSULE, Route of administration:ORAL, Intended dose regimen:Open period A capsule of each investigational drug (5-ALA HCl capsule (25 mg) and SFC capsule (39.22 mg)) is administered orally or by a feeding tube. If capsules cannot be swollen, the content should be dissolved at the time of administration. Double-blind period. Same dose in open period is administered orally or by a feeding tube. If capsules cannot be swollen, the content should be dissolved at the time of administration. Through the study treatment (open period and double-blind period), doses are based on the body weight at observation time during the treatment period.. | Saitama Medical University Hospital | NULL | Completed | >=3 MONTHS | No Limit | BOTH | 40 | Phase 3 | Japan |
| 20 | NCT03388528 (ClinicalTrials.gov) | September 8, 2017 | 27/10/2017 | Low Residue Diet Study in Mitochondrial Disease | Phase II Feasibility Study of the Efficacy and Acceptability of a Low Residue Diet in Adult Patients With Mitochondrial Disease | Mitochondrial Diseases | Dietary Supplement: Low Residue Diet Intervention | Newcastle University | Newcastle-upon-Tyne Hospitals NHS Trust | Completed | 18 Years | N/A | All | 36 | Phase 2 | United Kingdom |
| 21 | NCT02976038 (ClinicalTrials.gov) | December 2016 | 18/11/2016 | Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM) | A Multicenter, Open-Label Phase 2 Extension Trial to Characterize the Long-term Safety and Tolerability of Subcutaneous Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM) | Primary Mitochondrial Disease | Drug: elamipretide | Stealth BioTherapeutics Inc. | NULL | Terminated | 16 Years | N/A | All | 36 | Phase 2 | United States |
| 22 | EUCTR2016-001696-79-NL (EUCTR) | 06/09/2016 | 18/08/2016 | A Phase II study with KH176 in patients with mitochondrial disease | A double-blind, randomized, placebo-controlled, single-center, two-way cross-over study with KH176 in patients with the mitochondrial DNA tRNALeu(UUR) m.3243A>G mutation and clinical signs of mitochondrial disease - The KHENERGY study | Inherited mitochondrial disease, including MELAS (mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes) and MIDD (Maternally Inherited Diabetes and Deafness);Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18] | Product Name: KH176 Product Code: KH176 | Khondrion BV | NULL | Authorised-recruitment may be ongoing or finished | Female: yes Male: yes | Phase 2 | Netherlands | |||
| 23 | NCT02909400 (ClinicalTrials.gov) | September 2016 | 13/9/2016 | The KHENERGY Study | An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease | Mitochondrial Diseases;Mitochondrial Myopathies;Mitochondrial Encephalomyopathies;MELAS;MIDD | Drug: KH176;Drug: placebo | Khondrion BV | Radboud University | Completed | 18 Years | N/A | All | 20 | Phase 2 | Netherlands |
| 24 | NCT02805790 (ClinicalTrials.gov) | August 22, 2016 | 13/6/2016 | Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study | A Phase 2 Randomized, Double-Blind, Placebo-Controlled Crossover Study to Evaluate Safety, Tolerability, and Efficacy of Subcutaneous Injections of MTP-131 in Subjects With Mitochondrial Myopathy Previously Treated in the SPIMM-201 Study | Primary Mitochondrial Disease | Drug: Elamipretide;Drug: Placebo | Stealth BioTherapeutics Inc. | NULL | Completed | 16 Years | N/A | All | 30 | Phase 2 | United States |
| 25 | JPRN-JMA-IIA00214 | 02/06/2015 | 26/05/2015 | Long-term, multicenter trial of SPP-004 in mitochondrial diseases. | Long-term, multicenter trial of SPP-004 in mitochondrial diseases. | Mitochondrial disease, mainly to cranial nerve symptoms | Intervention type:DRUG. Intervention1:SPP-004, Dose form:CAPSULE, Route of administration:ORAL, intended dose regimen:5-ALA HCl and SFC capsules are administered orally or by a feeding tube in accordance with doses and frequency of administration based on body weight at each observation time during the period of treatment. If capsules cannot be swollen, the content should be dissolved at the time of administration.. | Saitama Medical University Hospital | NULL | Completed | >=9 MONTHS | <30 MONTHS | BOTH | 10 | Phase 2 | Japan |
| 26 | NCT02473445 (ClinicalTrials.gov) | May 19, 2015 | 10/6/2015 | A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease | A Long-Term Open-Label Extension Study of RP103-MITO-001 to Assess the Safety, Tolerability and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease | Mitochondrial Diseases | Drug: Cysteamine Bitartrate | Horizon Pharma USA, Inc. | NULL | Terminated | 6 Years | 17 Years | All | 22 | Phase 2 | United States |
| 27 | NCT02544217 (ClinicalTrials.gov) | May 2015 | 19/4/2015 | A Dose-escalating Clinical Trial With KH176 | A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 | MELAS;LHON;Leigh Syndrome;Mitochondrial Disease;Mitochondrial DNA tRNALeu(UUR) m.3243A | Drug: KH176;Drug: placebo | Khondrion BV | Drug Research Unit Ghent, Belgium | Completed | 18 Years | 55 Years | Male | 32 | Phase 1 | Belgium |
| 28 | NCT02367014 (ClinicalTrials.gov) | February 2015 | 9/2/2015 | Safety, Tolerability, and Efficacy of MTP-131 for the Treatment of Mitochondrial Myopathy | Phase 1/2 Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Clinical Study for the Safety, Tolerability, and Efficacy of IV MTP-131 for Mitochondrial Myopathy in Genetically Confirmed Mitochondrial Disease | Mitochondrial Myopathy | Drug: elamipretide (low dose);Drug: elamipretide (intermediate dose);Drug: elamipretide (high dose);Drug: Placebo | Stealth BioTherapeutics Inc. | NULL | Completed | 16 Years | 65 Years | All | 36 | Phase 1/Phase 2 | United States |
| 29 | JPRN-JMA-IIA00200 | 10/12/2014 | 09/12/2014 | Multicenter trial of SPP-004 in mitochondrial diseases | Multicenter trial of SPP-004 in mitochondrial diseases | Mitochondrial disease, mainly to cranial nerve symptoms | Intervention type:DRUG. Intervention1:SPP-004, Dose form:CAPSULE, Route of administration:ORAL, intended dose regimen:A capsule of each investigational drug [5-ALA HCl capsule (25 mg) and SFC capsule (39.22 mg)] is administered twice a day orally or by a feeding tube . After Week 13, a capsule of each investigational drug (5-ALA HCl capsule and SFC capsule) is administered twice a day orally and by a feeding tube. If capsules cannot be swollen, the content should be dissolved at the time of administration.. Control intervention1:Placebo, Dose form:CAPSULE, Route of administration:ORAL, Intended dose regimen:A capsule of each investigational drug [5-ALA HCl placebo capsule (25 mg) and SFC capsule (39.22 mg)] is administered twice a day orally or by a feeding tube. If capsules cannot be swollen, the content should be dissolved at the time of administration. . | Saitama Medical University Hospital | NULL | Completed | >=3 YEARS | <2 YEARS | BOTH | 10 | Phase 2 | Japan |
| 30 | NCT02023866 (ClinicalTrials.gov) | May 2014 | 17/12/2013 | Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease | An Open-Label, Dose-Escalating Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics and Pharmacodynamics of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease | Inherited Mitochondrial Disease, Including Leigh Syndrome | Drug: Cysteamine Bitartrate | Horizon Pharma USA, Inc. | NULL | Completed | 6 Years | 17 Years | All | 36 | Phase 2 | United States |
| 31 | NCT02053766 (ClinicalTrials.gov) | January 10, 2014 | 31/1/2014 | Anesthesia in Patients With Mitochondrial Disease | Anesthesia in Patients With Mitochondrial Disease | Mitochondrial Diseases | Drug: Sevoflurane;Drug: Dexmedetomidine;Drug: Propofol | The University of Texas Health Science Center, Houston | NULL | Recruiting | N/A | 17 Years | All | 60 | N/A | United States |
| 32 | NCT01642056 (ClinicalTrials.gov) | September 1, 2012 | 14/7/2012 | EPI-743 for Metabolism or Mitochondrial Disorders | Therapeutic Trial of EPI -743 In Patients With Disorders of Energy Utilization or Oxidation-Reduction | Mitochondrial Disease;Neurology;Myoptahy | Drug: EPI-743;Drug: Placebo | National Human Genome Research Institute (NHGRI) | NULL | Completed | 2 Years | 11 Years | All | 20 | Phase 1/Phase 2 | United States |
| 33 | NCT01831934 (ClinicalTrials.gov) | September 2010 | 19/3/2013 | Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) | Metabolic and Immune Responses to TIV in Patients With Mitochondrial Disease | MELAS Syndrome | Biological: Fluzone® | Stanford University | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) | Completed | 13 Years | 65 Years | All | 22 | Phase 4 | United States |
| 34 | NCT00432744 (ClinicalTrials.gov) | January 2007 | 6/2/2007 | Phase III Trial of Coenzyme Q10 in Mitochondrial Disease | Phase 3 Trial of Coenzyme Q10 in Mitochondrial Disease | Mitochondrial Diseases | Drug: CoenzymeQ10;Drug: Placebo | University of Florida | FDA Office of Orphan Products Development;Food and Drug Administration | Completed | 12 Months | 17 Years | All | 24 | Phase 3 | United States;Canada |
| 35 | NCT01001585 (ClinicalTrials.gov) | September 2006 | 21/10/2009 | Anesthetic Effects in Mitochondrial Disease | Anesthetic Effects in Mitochondrial Disease | Mitochondrial Disease | Drug: sevoflurane | d sessler | NULL | Terminated | 12 Months | 16 Years | Both | 55 | N/A | United States |
| 36 | NCT00060515 (ClinicalTrials.gov) | April 2003 | 7/5/2003 | RG2133 (2',3',5'-Tri-O-Acetyluridine) in Mitochondrial Disease | An Open-Label Dose-Escalation Phase I Study to Asses the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of RG2133 (2',3',5'-Tri-O-Acetyluridine) in the Treatment of Inherited Mitochondrial Diseases | Mitochondrial Diseases | Drug: RG2133 (2',3',5'-tri-O-acetyluridine) | Repligen Corporation | NULL | Terminated | 3 Years | N/A | Both | 12 | Phase 1 | United States |
| 37 | EUCTR2020-002100-39-PL (EUCTR) | 02/02/2022 | A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy | Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy (MIT-E) - MIT-E | Genetically determined mitochondrial disease and associated refractory epilepsy MedDRA version: 20.0;Level: LLT;Classification code 10077953;Term: Refractory epilepsy;System Organ Class: 100000004852 MedDRA version: 20.0;Level: HLT;Classification code 10052637;Term: Genetic mitochondrial abnormalities NEC;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Vatiquinone Product Code: PTC743 INN or Proposed INN: VATIQUINONE Other descriptive name: EPI743; alpha-tocotrienol quinone | PTC THERAPEUTICS, INC. | NULL | NA | Female: yes Male: yes | 80 | Phase 2;Phase 3 | France;United States;Spain;Poland;Germany;United Kingdom;Italy;Sweden | |||
| 38 | EUCTR2020-002100-39-FR (EUCTR) | 25/02/2021 | A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy | Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy (MIT-E) - MIT-E | Genetically determined mitochondrial disease and associated refractory epilepsy MedDRA version: 20.0;Level: LLT;Classification code 10077953;Term: Refractory epilepsy;System Organ Class: 100000004852 MedDRA version: 20.0;Level: HLT;Classification code 10052637;Term: Genetic mitochondrial abnormalities NEC;System Organ Class: 100000004850;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Vatiquinone Product Code: PTC743 INN or Proposed INN: VATIQUINONE Other descriptive name: EPI743; alpha-tocotrienol quinone | PTC THERAPEUTICS, INC. | NULL | NA | Female: yes Male: yes | 80 | Phase 2;Phase 3 | United States;France;Spain;Germany;United Kingdom;Italy | |||
| 39 | EUCTR2020-002100-39-SE (EUCTR) | 14/12/2021 | A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy | Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy (MIT-E) - MIT-E | Genetically determined mitochondrial disease and associated refractory epilepsy;Therapeutic area: Diseases [C] - Nervous System Diseases [C10] | Product Name: Vatiquinone Product Code: PTC743 INN or Proposed INN: VATIQUINONE Other descriptive name: EPI743; alpha-tocotrienol quinone | PTC THERAPEUTICS, INC. | NULL | NA | Female: yes Male: yes | 88 | Phase 2;Phase 3 | France;United States;Canada;Spain;Poland;Australia;Russian Federation;Germany;United Kingdom;Italy;Japan;Sweden |