MELAS syndrome
Information
- Disease name
- MELAS syndrome
- Disease ID
- DOID:3687
- Description
- "A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins." [url:https\://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05255328 | Active, not recruiting | N/A | Clinical Long Term Evaluation of Glutamine Supplement in MELAS Syndrome | July 1, 2021 | July 24, 2024 |
| NCT00887562 | Completed | Phase 2 | Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes | May 2009 | July 2012 |
| NCT01252979 | Completed | Early Phase 1 | Ketones & Mitochondrial Heteroplasmy | December 2010 | December 2011 |
| NCT01339494 | Completed | Early Phase 1 | Nitric Oxide Production in MELAS Syndrome | July 2009 | April 2016 |
| NCT01603446 | Completed | Phase 2 | L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome | May 2012 | December 2013 |
| NCT01831934 | Completed | Phase 4 | Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) | September 2010 | March 2012 |
| NCT00004353 | Completed | Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia | December 1978 | ||
| NCT03056209 | Completed | Phase 1 | Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers | June 26, 2017 | April 16, 2018 |
| 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 |
| NCT04165239 | Completed | Phase 2 | The KHENERGYZE Study | October 30, 2019 | May 24, 2022 |
| NCT04948138 | Completed | N/A | Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome | June 28, 2021 | October 6, 2021 |
| NCT06013397 | Not yet recruiting | N/A | Effectiveness of Ketogenic Diet in MELAS Syndrome | September 1, 2023 | June 1, 2038 |
| NCT05554835 | Recruiting | Global Registry and Natural History Study for Mitochondrial Disorders | February 1, 2009 | December 2040 | |
| NCT03952234 | Recruiting | Phase 1 | L-Citrulline Dose Finding Safety Study in MELAS | April 22, 2021 | June 2024 |
| NCT02114554 | Unknown status | Mitochondrial nt3243 A>G Mutation in Taiwan | January 2014 | January 2015 | |
| NCT00068913 | Unknown status | Phase 2 | Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome | March 2000 |
- Disase is a (Disease Ontology)
- DOID:890
- Cross Reference ID (Disease Ontology)
- ICD10CM:E88.41
- Cross Reference ID (Disease Ontology)
- MESH:D017241
- Cross Reference ID (Disease Ontology)
- MIM:540000
- Cross Reference ID (Disease Ontology)
- NCI:C84885
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:39925003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0162671
- Exact Synonym (Disease Ontology)
- MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
- MeSH unique ID (MeSH (Medical Subject Headings))
- D017241