Disease · MONDO_0044970
mitochondrial disease
6 sourcesdiseases-2026-09-18-0.1.0
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ConductScience Library. mitochondrial disease. Diseases, record MONDO_0044970. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0044970
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Disease
Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.
- Name
- mitochondrial disease
- Open Targets ID
- MONDO_0044970
- Other names
Deficiencies, Oxidative Phosphorylation, Deficiencies, Respiratory Chain, Deficiency, Oxidative Phosphorylation, Deficiency, Respiratory Chain, Disease, Mitochondrial, Disorder, Mitochondrial, Disorders, Mitochondrial, ELECTRON TRANSPORT CHAIN DEFIC MITOCHONDRIAL, Electron Transport Chain Deficiencies, Mitochondrial, MITOCHONDRIAL DIS, MITOCHONDRIAL ELECTRON TRANSPORT CHAIN DEFIC, Mitochondrial Diseases, Mitochondrial Disorders, Mitochondrial Electron Transport Chain Deficiencies, Mitochondrial Respiratory Chain Deficiencies, OX PHOS DEFIC, Oxidative Phosphorylation Deficiencies, Oxidative Phosphorylation Deficiency, Phosphorylation Deficiencies, Oxidative, Phosphorylation Deficiency, Oxidative, RESPIRATORY CHAIN DEFIC MITOCHONDRIAL, Respiratory Chain Deficiencies, Mitochondrial, Respiratory Chain Deficiency, hyperglycaemia, mitochondrial disease/disorder, mitochondrial disorder
- Highest stage of its drugs
- Approval, for 3 of its 16 drugs, from DailyMed and EMA Human Drugs
Source Open Targets
Drugs16
The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.
| Drug | ChEMBL ID | Type | Open Targets' stage | Stage reported by | Reports | Of them trials | Trials shown here | Source |
|---|---|---|---|---|---|---|---|---|
| DOXECITINE | CHEMBL66115 | Small molecule | Approval | EMA Human Drugs | 1 | 0 | 0 | Drugs and targets |
| DOXRIBTIMINE | CHEMBL52609 | Small molecule | Approval | EMA Human Drugs | 1 | 0 | 0 | Drugs and targets |
| VALPROIC ACID | CHEMBL109 | Small molecule | Approval | DailyMed | 1 | 0 | 0 | Drugs and targets |
| SONLICROMANOL | CHEMBL4802153 | Small molecule | Phase 3 | ClinicalTrials.gov | 5 | 5 | 5 | Drugs and targets |
| VATIQUINONE | CHEMBL1812161 | Small molecule | Phase 3 | ClinicalTrials.gov | 3 | 3 | 3 | Drugs and targets |
| VILDAGLIPTIN | CHEMBL142703 | Small molecule | Phase 3 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| UBIDECARENONE | CHEMBL454801 | Small molecule | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| NAPAZIMONE | CHEMBL4594430 | Small molecule | Phase 2 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| CYSTEAMINE BITARTRATE | CHEMBL1200577 | Small molecule | Phase 2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| ALDESLEUKIN | CHEMBL1201438 | Protein | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
1 to 10 of 16
See all 16 drugsTargets31
The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.
| Target | Protein | Its drugs that act on it | Mechanisms | Highest stage of those drugs | Gene in Genes | Source |
|---|---|---|---|---|---|---|
| DPP4 | Dipeptidyl peptidase 4 | 2 | Dipeptidyl peptidase IV inhibitor | Phase 3 | https://conductscience.org/library/genes/1803 | Drugs and targets |
| ABCA1 | Phospholipid-transporting ATPase ABCA1 | 1 | ATP-binding cassette sub-family A member 1 inhibitor | Unknown | https://conductscience.org/library/genes/19 | Drugs and targets |
| ALDH5A1 | Succinate-semialdehyde dehydrogenase, mitochondrial | 1 | Succinate semialdehyde dehydrogenase inhibitor | Approval | https://conductscience.org/library/genes/7915 | Drugs and targets |
| GABRA1 | GABA-A receptor; anion channel | 1 | GABA-A receptor; anion channel positive allosteric modulator | Unknown | https://conductscience.org/library/genes/2554 | Drugs and targets |
| GABRA2 | GABA-A receptor; anion channel | 1 | GABA-A receptor; anion channel positive allosteric modulator | Unknown | https://conductscience.org/library/genes/2555 | Drugs and targets |
| GABRA3 | GABA-A receptor; anion channel | 1 | GABA-A receptor; anion channel positive allosteric modulator | Unknown | https://conductscience.org/library/genes/2556 | Drugs and targets |
| GABRA4 | GABA-A receptor; anion channel | 1 | GABA-A receptor; anion channel positive allosteric modulator | Unknown | https://conductscience.org/library/genes/2557 | Drugs and targets |
| GABRA5 | GABA-A receptor; anion channel | 1 | GABA-A receptor; anion channel positive allosteric modulator | Unknown | https://conductscience.org/library/genes/2558 | Drugs and targets |
| GABRA6 | GABA-A receptor; anion channel | 1 | GABA-A receptor; anion channel positive allosteric modulator | Unknown | https://conductscience.org/library/genes/2559 | Drugs and targets |
| GABRB1 | GABA-A receptor; anion channel | 1 | GABA-A receptor; anion channel positive allosteric modulator | Unknown | https://conductscience.org/library/genes/2560 | Drugs and targets |
1 to 10 of 31
See all 31 targetsTrials22
Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.
| Trial | Title | Phase | Participants | Results first posted | Conditions | Drugs | Linked by | Source |
|---|---|---|---|---|---|---|---|---|
| NCT00353431 | Evaluation of an Algorithm for Intensive s.c. Insulin Therapy in Emergency Room Patients With Hyperglycaemia | Not applicable | 130 | 2012-05-08 | Hyperglycemias | INSULIN HUMAN | Its record names the disease | ClinicalTrials.gov |
| NCT05218655 | A Safety Study for Previously Treated Vatiquinone (PTC743) Participants With Inherited Mitochondrial Disease | Phase 3 | 101 | 2025-12-22 | Inherited Mitochondrial Disease | VATIQUINONE | Its record names the disease | ClinicalTrials.gov |
| NCT02023866 | Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease | Phase 2 | 36 | 2017-11-13 | Inherited Mitochondrial Disease, Including Leigh Syndrome | CYSTEAMINE BITARTRATE | Its record names the disease | ClinicalTrials.gov |
| NCT02367014 | Safety, Tolerability, and Efficacy of MTP-131 for the Treatment of Mitochondrial Myopathy | Phase 1/2 | 36 | 2019-12-27 | Mitochondrial Myopathy | ELAMIPRETIDE | Its record names the disease | ClinicalTrials.gov |
| NCT00432744 | Phase III Trial of Coenzyme Q10 in Mitochondrial Disease | Phase 3 | 24 | 2014-05-01 | Mitochondrial Diseases | UBIDECARENONE | Its record names the disease | ClinicalTrials.gov |
| NCT01642056 | EPI-743 for Metabolism or Mitochondrial Disorders | Phase 1/2 | 20 | 2021-04-14 | Mitochondrial Disease, Neurology, Myopathy | VATIQUINONE | Its record names the disease | ClinicalTrials.gov |
| NCT06451757 | KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases | Phase 3 | 220 | Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS), Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation | SONLICROMANOL | Its record names the disease | ClinicalTrials.gov | |
| NCT05650229 | Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease | Phase 2 | 180 | Primary Mitochondrial Disease | NAPAZIMONE | Open Targets' reading of its record | ClinicalTrials.gov | |
| NCT00300287 | A 56-Week Extension to a Clinical Study to Assess the Efficacy and Safety of Vildagliptin Compared to Placebo in Drug Naive Patients With Type 2 Diabetes and Mild Hyperglycemia | Phase 3 | 150 | Diabetes Mellitus, Type 2 | VILDAGLIPTIN | Its record names the disease | ClinicalTrials.gov | |
| NCT03180281 | Therapies on Newly Diagnosed Type 2 Diabetes Patients With High Glucose Toxicity Which Protect Islet β Cell | Not applicable | 135 | Type 2 Diabetes Mellitus | INSULIN HUMAN, SITAGLIPTIN PHOSPHATE | Its record names the disease | ClinicalTrials.gov |
1 to 10 of 22
See all 22 trialsComparisons in its trials8
Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.
| Comparison | Group 1, with the outcome | Group 2, with the outcome | Participants | Trial | Source |
|---|---|---|---|---|---|
| Conventional Insulin Group vs Intensive Insulin Therapy Algorithm: Frequency of Hypoglycemia | 4 of 63 | 13 of 67 | 130 | NCT00353431 | Trial comparisons |
| Conventional Insulin Group vs Intensive Insulin Therapy Algorithm: Frequency of Hypokalaemia | 15 of 63 | 15 of 67 | 130 | NCT00353431 | Trial comparisons |
| Conventional Insulin Group vs Intensive Insulin Therapy Algorithm: Frequency of Severe Hypoglycaemia | 0 of 63 | 1 of 67 | 130 | NCT00353431 | Trial comparisons |
| Conventional Insulin Group vs Intensive Insulin Therapy Algorithm: serious adverse events | 0 of 63 | 0 of 67 | 130 | NCT00353431 | Trial comparisons |
| CoenzymeQ10 vs Placebo: serious adverse events | 1 of 19 | 2 of 20 | 39 | NCT00432744 | Trial comparisons |
| EPI-743 vs Placebo: deaths from any cause | 1 of 20 | 0 of 19 | 39 | NCT01642056 | Trial comparisons |
| EPI-743 vs Placebo: serious adverse events | 3 of 20 | 4 of 19 | 39 | NCT01642056 | Trial comparisons |
| CoenzymeQ10 Frist vs Placebo First: Non-parametric Hotelling T-square Bivariate Analysis of GMGF 88 and OPeds QOL. | 8 of 8 | 7 of 7 | 15 | NCT00432744 | Trial comparisons |
Papers from its trials7
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
Data dates
The date of each source this release read.
Sources 6
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- NLM's MeSHNLM's terms
- Open TargetsCC0 1.0
- PubMedNLM's terms
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- NLM's MeSHNLM's
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this disease from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/diseases/v1/MONDO_0044970
GET https://conductscience.org/api/diseases/v1/MONDO_0044970/targets?page=2