[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"melas-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:melas-syndrome":31},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,58,110,136,148],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":43,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":46,"lastUpdatePostDateStruct":47,"startDateStruct":50,"completionDateStruct":52,"leadSponsor":54,"locationsCount":57},"100053513","global-registry-and-natural-history-study-for-mitochondrial-disorders-100053513",false,"NCT05554835","Global Registry and Natural History Study for Mitochondrial Disorders","Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders","GENOMIT","Inclusion Criteria:\n\n* suspected or confirmed mitochondrial disease\n* willingness to participate\n\nExclusion Criteria:\n\n* unwillingness to participate","ALL",{"count":19,"type":20},6000,"ESTIMATED","30 Years","OBSERVATIONAL","The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.",[25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42],"Mitochondrial Diseases","Kearns-Sayre Syndrome","MIDD","SANDO","SCAE","NARP Syndrome","MELAS Syndrome","MERRF Syndrome","Coenzyme Q10 Deficiency","LHON","MNGIE","MIRAS","Barth Syndrome","MDS","Mitochondrial Myopathies","Leigh Syndrome","Pearson Syndrome","CPEO",[44],"Patient Registry","RECRUITING","2026-07-09",{"date":48,"type":49},"2026-07-13","ACTUAL",{"date":51,"type":49},"2009-02-01",{"date":53,"type":20},"2040-12",{"name":55,"class":56},"LMU Klinikum","OTHER",33,{"id":59,"slug":60,"hasResults":11,"nctId":61,"briefTitle":62,"officialTitle":63,"acronym":4,"eligibilityCriteria":64,"healthyVolunteers":11,"sex":17,"minAge":65,"maxAge":66,"enrollmentInfo":67,"targetDuration":4,"studyType":69,"phases":70,"briefSummary":73,"conditions":74,"keywords":76,"overallStatus":99,"whyStopped":4,"lastUpdateSubmitDate":100,"lastUpdatePostDateStruct":101,"startDateStruct":103,"completionDateStruct":105,"leadSponsor":107,"locationsCount":109},"100576992","phase-1-a-basket-clinical-study-to-assess-glycerol-tributyrate-in-patients-with-mitochondrial-encephalopathy-lactic-acidosis-stroke-like-episodes-melas-or-lebers-hereditary-optic-neuropathy-plus-lhon-plus-100576992","NCT06792500","A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)","Investigational Study of Glycerol Tributyrate in MELAS and LHON-Plus","Inclusion Criteria:\n\n* Participants must be aged 18 to 65 years\n* A confirmed molecular diagnosis of MELAS or LHON-Plus\n* Symptomatic participants with MELAS harboring the m.3243A\\>G variant or a mitochondrial pathogenic variant solely mapping in a mitochondrial gene encoding a mitochondrial subunit of Complex I\n* Symptomatic participants with LHON-Plus harboring the m.11778G\\>A or a mitochondrial pathogenic variant only mapping in a mitochondrial gene encoding a mitochondrial subunit of Complex I\n* Normal enzymatic Complex II activity\n* Participants able to swallow capsules and comply with the requirements of the study according to the opinion of the investigator\n* Able to give written, informed consent\n* Participants who are sexually active and\u002For fertile must use an effective birth control during the study\n\nExclusion Criteria:\n\n* • History of another primary mitochondrial disorder\n\n  * Participants acutely ill\n  * Positive urine pregnancy test for female subjects of childbearing potential within seven days prior to the first dose of the investigational drug\n  * Pregnancy and\u002For breastfeeding\n  * Participating in another mitochondrial disorder trial\n  * Participated in another mitochondrial disorder trial within the last six months\n  * On a current therapy with other investigational agents\n  * Absence of neurological symptoms, muscle weakness, or exercise intolerance\n  * Presence of any of the following signs or symptoms in the past six months at grade 3 or higher based on the CTCAE version 4.03: nausea, vomiting, diarrhea, hypoglycemia, hyperglycemia, dizziness, blurred vision, or syncope\n  * A known hypersensitivity to any excipient contained in the drug formulation\n  * Current abuse of drugs and\u002For alcohol\n  * Unable to consent for themselves\n  * Participants with an enteral feeding tube\n  * Inability to travel to the study site","18 Years","65 Years",{"count":68,"type":20},24,"INTERVENTIONAL",[71,72],"PHASE1","PHASE2","This is a parallel arm non-randomized dose-escalation, open-label basket exploratory phase 1 clinical trial where Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) and Leber's hereditary optic neuropathy-Plus (LHON-Plus) participants will undergo simultaneous enrollment in two disease-based arms and receive daily oral doses of glycerol tributyrate to assess its safety and potential for efficacy using clinical, biochemical, and molecular evidence.\n\nThis study will utilize a two-month baseline lead-in phase to establish and document the clinical baseline for each participant in both arms in order to compare the molecular and clinical parameters. This is clinically relevant in light of the high clinical heterogeneity among subjects affected by the same mitochondrial disease (MELAS or LHON-Plus). For ethical concerns prompted by the lack of treatment for these two intractable and progressive mitochondrial diseases, there will not be a placebo control group. Thus, each participant will act as their own control and receive oral doses of glycerol tributyrate, eliminating the need for a placebo. Considering the high clinical heterogeneity among participants affected by MELAS or LHON-Plus and some clinical divergence between MELAS and LHON-Plus, this strategy is beneficial to every enrolled participants, as each will receive the investigational drug, glycerol tributyrate. In addition, this approach will determine the subject-specific maximal optimized dose in a personalized medicine-based approach.\n\nAfter approval of the IRB protocol from the Institutional Review Board Data and signed consent form from all participants, this investigational basket clinical trial has three phases spanning over 20 months:\n\n* A baseline lead-in phase (2 months) to collect participant-specific baseline for clinical, biochemical, molecular and metabolic biomarkers that will be monitored throughout the subsequent dose-escalation and clinical phases.\n* A dose-escalation phase (6 months) to determine the participant-specific maximum tolerated dose (MTD) during which participant-specific clinical and biochemical biomarkers are collected every month.\n* A clinical phase at a fixed subject-specific MTD dose (12 months) to collect participant-specific clinical, biochemical, molecular and metabolic biomarkers and to perform three scheduled skin biopsies: at the outset, mid-point, and the end of this clinucal phase. We have planned for a 12-month-long clinical phase at a fixed participant-specific MTD considering the absence of reliable predictors that makes idiosyncratic disease-specific symptoms for MELAS and LHON-Plus impossible to forecast among participant for assessing the potential efficacy of glycerol tributyrate by monitoring clinical symptoms specific for each disease. During the 12-month-long time-frame, disease-specific clinical symptoms will be collected as preliminary evidence of efficacy of glycerol tributyrate using disease-specific biomarkers.\n\nFinally, discharge procedure during which the clinical investigator will record non-serious adverse events or serious adverse events for 7 or 30 days, respectively, after the last day of study participation.",[31,75],"Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)",[77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98],"Mitochondrial Disease","Pathogenic mitochondrial variants","ATP deficiency","Maternal inheritance","Stroke-like episodes","Chronic energy deficit","Deficient oxidative phosphorylation","Seizures","Extreme tiredness","Myopathy","Migraines","Gastrointestinal dysmotility","visual loss","Dystonia","Anxiety","Hearing loss","Tremors","Lactic Acidosis","Cognitive deficit","Neuropathy","m.3243 variant","m.11778 variant","NOT_YET_RECRUITING","2026-06-03",{"date":102,"type":49},"2026-06-04",{"date":104,"type":20},"2026-10",{"date":106,"type":20},"2028-03",{"name":108,"class":56},"George Washington University",1,{"id":111,"slug":112,"hasResults":11,"nctId":113,"briefTitle":114,"officialTitle":115,"acronym":4,"eligibilityCriteria":116,"healthyVolunteers":11,"sex":17,"minAge":117,"maxAge":118,"enrollmentInfo":119,"targetDuration":4,"studyType":69,"phases":121,"briefSummary":122,"conditions":123,"keywords":4,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":125,"lastUpdatePostDateStruct":126,"startDateStruct":128,"completionDateStruct":130,"leadSponsor":132,"locationsCount":135},"100565619","phase-2-a-study-to-assess-tti-0102-vs-placebo-in-melas-patients-100565619","NCT06644534","A Study to Assess TTI-0102 vs Placebo in MELAS Patients","A Multi-Center, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral TTI-0102 for Treatment of Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)","Inclusion Criteria:\n\n1. Patient or Patient's legally designated representative has given written informed consent before any study-related activities are carried out and is able to understand the full nature and purpose of the trial, including possible risks and adverse effects. Patient has provided assent according to local\u002Finstitutional requirements.\n2. Males and females between 16 and 60 years of age at screening.\n3. Diagnosis of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), defined as:\n\n   \\- mtDNA mutation known to be associated with MELAS and MELAS phenotype (Emmanuele et al., 2022) including but not limited to: m.3243A\\>G, m.13513G\\>A, m.10191T\\>C, m. 3271T\\>C, m. 13136\\_15374del, m. 8363G\\>A. Mutation must have heteroplasmy \\>50% characterized by mutation load in urinary epithelium or blood.\n\n   AND\n\n   \\- two or more of the following clinical symptoms indicative of MELAS phenotype: diabetes, myopathy, seizures, at least one historic stroke-like episode, and exercise intolerance.\n4. Moderate disease severity defined as Newcastle Mitochondrial Disease Adult Scale (NMDAS) score between 15 to 45 inclusive.\n5. Able to complete a 12-minute walk test (12-MWT) distance of at least 150 meters and no more than 1000 meters within 30 days prior to, or at time of screening.\n6. Subjects regularly taking dietary supplements including but not limited to creatine, alpha-lipoic acid, CoQ10, B vitamins, levocarnitine shall have been taking them for at least 3 months pre-study and will agree to continue taking them throughout the study (from the Screening Visit to Study Exit).\n7. With respect to concomitant medications, the subject must:\n\n   1. Be willing to abstain from initiating new dietary supplements and non-prescribed medications, except as permitted by the Investigator throughout the study.\n   2. Be on a stable dose of medications prescribed for seizure management and prevention. Stable dose in this context means unchanged for at least 30 days prior to the Screening Visit.\n8. Willing and able to comply with study drug dosing requirements, i.e., able to ingest study drug solution orally.\n9. Female participants:\n\n   * Must be of nonchildbearing potential (i.e., surgically sterilized \\[hysterectomy, bilateral salpingectomy, bilateral oophorectomy at least 6 weeks before the screening visit\\]) or postmenopausal (where postmenopausal is defined as no menses for 12 months without an alternative medical cause, and a follicle-stimulating hormone \\[FSH\\] level \\>40 IU\u002FL at the screening visit), or\n   * If of childbearing potential, must agree not to donate ova, not to attempt to become pregnant and, if engaging in sexual intercourse with a male partner, must agree to the use of acceptable forms of highly effective contraception (refer to protocol Section 19.2) from the time of signing the consent form until at least 30 days after the last dose of the study drug.\n10. Male participants:\n\n    * Engaging in any sexual intercourse, including those who are infertile and do not produce sperm (e.g. post-vasectomy), must abstain from unprotected sex until the Study Exit visit.\n    * Must agree to abstain from sperm donation, and if engaging in sexual intercourse with a female of child bearing potential must agree to the use of an acceptable form of highly effective contraception (refer to protocol Section 19.2) from the time of signing the consent form until at least 30 days after the last dose of study drug.\n11. Have suitable venous access for blood sampling.\n12. Be willing and able to comply with all study assessments and adhere to the protocol schedule and restrictions.\n\nExclusion Criteria:\n\n1. Documented diagnosis of concurrent inborn errors of metabolism.\n2. Non-elective hospitalization related to their mitochondrial disease or direct complication of disease within 60 days prior to the Screening Visit.\n3. Overt comorbidity preventing them from safely performing an exercise. In particular, patients suffering from cardiovascular, neurological disorders (e.g. ataxia, sequel blindness from pseudostroke, peripheral neuropathy) or advanced osteo-arthrosis.\n4. Treatment with taurine during the previous month, and not willing to discontinue for the duration of the trial.\n5. Platelet count, lymphocyte count or hemoglobin level below the lower limit of normal (LLN) at screening.\n6. Hepatic insufficiency with liver enzyme tests (alkaline phosphatase, AST or ALT) greater than 2.5 times to upper limit of normal (ULN) at screening.\n7. Bilirubin \\> 1.2 g\u002FdL at screening.\n8. Renal insufficiency, defined as 1) a requirement for chronic dialysis or 2) serum creatinine ≥1.2 mg\u002Fdl or creatinine clearance \\\u003C60 ml\u002Fmin\n9. Severe gastrointestinal disease including gastroparesis.\n10. Presence or having sequelae of gastrointestinal, liver, kidney, or other conditions known to interfere with the absorption, distribution, metabolism, or excretion of drugs. Examples: malabsorption requiring TPN, chronic diarrhea, bouts of pseudo obstruction.\n11. Severe end-organ hypo-perfusion syndrome secondary to cardiac failure resulting in lactic acidosis.\n12. Patients with suspected elevated intracranial pressure, pseudotumor cerebri (PTC) and\u002For papilledema.\n13. History of angina, myocardial infarction, or cardiac surgery within 2 years prior to screening.\n14. History of drug or alcohol abuse.\n15. History of pancreatitis.\n16. Known or suspected hypersensitivity to cysteamine.\n17. Allergy to any medicine containing mercaptamine, penicillamine or known hypersensitivity to any of the study drug ingredients.\n18. Evidence of or verbal attestation of Helicobacter pylori infection, presently, or within the last 90 days prior to Screening.\n19. Use of any live vaccinations within 30 days prior to the first study drug administration except for the influenza vaccine (note that COVID-19 vaccine is permitted).\n20. For women of childbearing potential, a positive urine pregnancy test and confirmatory positive serum test at screening. Must not be currently breastfeeding.\n21. Donation of blood or plasma within 30 days prior to first study drug administration, or loss of whole blood of more than 500 mL within 30 days prior to first study drug administration, or receipt of a blood transfusion within 1 year of first study drug administration.\n22. Participation in another investigational clinical trial within 30 days if a drug, or 90 days for a biologic or device, prior to screening.\n23. Any other condition or prior therapy that in the opinion of the Investigator would make the subject unsuitable for this study, including inability to cooperate fully with the requirements of the study protocol or likelihood of noncompliance with any study requirements.","16 Years","60 Years",{"count":120,"type":20},12,[72],"This is a randomized, double-blind, placebo-controlled study. Prior to treatment, patients will undergo a screening visit. If eligible, each subject will return for a Day 1 visit and will receive their first dose of investigational product (TTI-0102 or placebo). At the end of the first week of treatment, subjects will return for a Week 1\u002FDay 8 study visit to assess study drug dosing\u002Ftolerance and instruct on dosing for the upcoming second week of treatment.\n\nFor the first 8 weeks of treatment, subjects will alternate between returning to the clinic for detailed assessments (Weeks 4 and 8) and receiving a telephone call from the Investigator team to assess safety and TTI-0102 dose (Weeks 2 and 6) and the potential need for an immediate unscheduled study visit.\n\nAfter the first 8 weeks of treatment, subjects will continue to return to the clinic for monthly assessments at Weeks 12, 16, 20. The Study Exit visit will occur at Week 24, and subjects will be offered to continue on an open-label extension study of TTI-0102. If a subject does not complete the study, they will be asked to return for a Study Exit visit 4 weeks after last study drug dose.\n\nPrimary Objective The primary objective of this study is to assess the efficacy, safety and tolerability of oral TTI 0102 compared to placebo, for up to 6 months in patients with MELAS.\n\nSecondary Objective The secondary objectives of this study are to assess the efficacy, pharmacokinetics (PK) and pharmacodynamics (PD) of cysteamine after oral administration of TTI-0102 at steady state, in patients with MELAS on a stable dose of TTI-0102.\n\nThis is a randomized, double-blind, placebo-controlled study. Prior to treatment, patients will undergo a screening visit. If eligible, each subject will return for a Day 1 visit and will receive their first dose of investigational product (TTI-0102 or placebo). At the end of the first week of treatment, subjects will return for a Week 1\u002FDay 8 study visit to assess study drug dosing\u002Ftolerance and instruct on dosing for the upcoming second week of treatment.\n\nFor the first 8 weeks of treatment, subjects will alternate between returning to the clinic for detailed assessments (Weeks 4 and 8) and receiving a telephone call from the Investigator team to assess safety and TTI-0102 dose (Weeks 2 and 6) and the potential need for an immediate unscheduled study visit.\n\nAfter the first 8 weeks of treatment, subjects will continue to return to the clinic for monthly assessments at Weeks 12, 16, 20. The Study Exit visit will occur at Week 24, and subjects will be offered to continue on an open-label extension study of TTI-0102. If a subject does not complete the study, they will be asked to return for a Study Exit visit 4 weeks after last study drug dose.\n\nStudy Drug Dosing To prevent any manifestation of intolerance at the initiation of drug treatment, only half a dose (2.75 grams) will be given once a day for the first week of treatment. During the following weeks of treatment, patients will be given a full dose of 5.5 grams once a day.\n\nInterim Data Review After nine (9) patients have completed three months of treatment (the Week 12 visit) an interim data cut will take place to assess safety and potential efficacy signals. Even if no indications of efficacy are detected at this early stage, the trial itself will not be terminated unless there is a serious safety concern (i.e., protocol-defined Stopping Criteria are met).",[31,124],"Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)","2025-09-02",{"date":127,"type":49},"2025-09-09",{"date":129,"type":49},"2025-05-12",{"date":131,"type":20},"2026-06-30",{"name":133,"class":134},"Thiogenesis Therapeutics, Inc.","INDUSTRY",2,{"id":137,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":138,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":139,"keywords":140,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":141,"lastUpdatePostDateStruct":142,"startDateStruct":144,"completionDateStruct":145,"leadSponsor":146,"locationsCount":147},"100481885",{"count":19,"type":20},[25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42],[44],"2025-06-02",{"date":143,"type":49},"2025-06-05",{"date":51,"type":49},{"date":53,"type":20},{"name":55,"class":56},18,{"id":149,"slug":150,"hasResults":11,"nctId":151,"briefTitle":152,"officialTitle":153,"acronym":4,"eligibilityCriteria":154,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":155,"targetDuration":4,"studyType":69,"phases":157,"briefSummary":159,"conditions":160,"keywords":4,"overallStatus":99,"whyStopped":4,"lastUpdateSubmitDate":162,"lastUpdatePostDateStruct":163,"startDateStruct":165,"completionDateStruct":167,"leadSponsor":169,"locationsCount":109},"100517119","effectiveness-of-ketogenic-diet-in-melas-syndrome-100517119","NCT06013397","Effectiveness of Ketogenic Diet in MELAS Syndrome","Clinical Trial of Ketogenic Diet in the Treatment of Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-like Episodes(MELAS)","Inclusion Criteria:\n\n* Patients who meet the diagnostic criteria of MELAS and have received MELAS standard therapy but are not satisfied with the therapeutic effect, and voluntarily underwent ketogenic therapy\n\nExclusion Criteria:\n\n* Diseases with porphyria and disturbances in fatty acid transport and oxidation, severe electrolyte metabolism abnormalities, severe hemodynamic instability, acute respiratory infections, uncontrolled systemic infections, severe liver and renal failure, cholesterolemia (\\>300mgdl), abnormal coagulation, acute pancreatitis, eating disorders, ketogenic diet intolerance, significant weight loss, poor compliance",{"count":156,"type":20},100,[158],"NA","The goal of this clinical trial is to evaluate the effectiveness of ketogenic diet in patients with MELAS syndrome. The main questions it aims to answer are:\n\nClarify the curative effects of ketogenic diet in the treatment of MELAS disease.\n\nPrevent the aggravation of MELAS disease, and improve the quality of life of patients.\n\nProvide reliable evidence-based medical basis for the clinical application of ketogenic diet in the treatment of MELAS syndrome patients.\n\nThe clinical data of the participants treated with ketogenic diet will be collected, including the completion of ketogenic diet and clinical data at the start of treatment and after 1 month, 3 months, 6 months and 12 months",[31,161],"Ketogenic Dieting","2023-08-25",{"date":164,"type":49},"2023-08-28",{"date":166,"type":20},"2023-09-01",{"date":168,"type":20},"2038-06-01",{"name":170,"class":56},"Second Affiliated Hospital, School of Medicine, Zhejiang University"]