[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mitochondrial-diseases\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mitochondrial-diseases":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,19,0,[8,58,88,121,146,168,191,221,253,276,331,354,374,401,413,447,852,872,893],{"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":65,"sex":17,"minAge":66,"maxAge":67,"enrollmentInfo":68,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":70,"conditions":71,"keywords":4,"overallStatus":78,"whyStopped":4,"lastUpdateSubmitDate":79,"lastUpdatePostDateStruct":80,"startDateStruct":82,"completionDateStruct":84,"leadSponsor":86,"locationsCount":4},"100645274","metabolic-and-functional-study-of--t-cells-in-critically-ill-patients-100645274","NCT07680816","Metabolic and Functional Study of γδ T Cells in Critically Ill Patients","Subset-specific Metabolic Adaptation and Functional Remodeling of Gamma Delta T (γδ T) Cells in Critically Ill ICU Patients: A Single-center, Prospective, Observational Cohort Study.","Inclusion Criteria:\n\n1. Healthy Control Group (NHC):\n\n   * Age ≥ 18 years.\n   * No acute or chronic major diseases.\n   * Provide written informed consent.\n2. Non-septic Critical Illness Group (CI-NS):\n\n   * Age ≥ 18 years.\n   * Admitted to the ICU and meeting the definition of critical illness.\n   * Excluded from sepsis according to the Sepsis-3 criteria (infection + ΔSOFA ≥ 2 points).\n   * Written informed consent provided by the participant or legally authorized representative.\n3. Septic Critical Illness Group (CI-Sep):\n\n   * Age ≥ 18 years.\n   * Admitted to the ICU and meeting the Sepsis-3 criteria (infection + ΔSOFA ≥ 2 points).\n   * Written informed consent provided by the participant or legally authorized representative.\n\nExclusion Criteria:\n\n* Age \\\u003C 18 years.\n* Known immunodeficiency, HIV infection, active hematologic malignancy, or history of hematopoietic stem cell or solid organ transplantation within the past 3 months.\n* Receipt of T-cell-targeted immunosuppressive therapy (e.g., antithymocyte globulin, calcineurin inhibitors, mycophenolate mofetil, methotrexate, or high-dose corticosteroids \\>1 mg\u002Fkg\u002Fday prednisone equivalent) before ICU admission or within 24 hours after ICU admission.\n* Use of immune checkpoint inhibitors (e.g., anti-PD-1\u002FPD-L1\u002FCTLA-4 antibodies) within the past 6 weeks.\n* Expected ICU stay \\\u003C 24 hours or imminent risk of death (moribund state).\n* Pregnancy or breastfeeding.\n* Active major bleeding.\n* Inability to obtain informed consent.",true,"18 Years","80 Years",{"count":69,"type":20},105,"This prospective observational cohort study investigates the subset-specific metabolic adaptation and functional remodeling of cytotoxic γδT cells in critically ill patients with and without sepsis. Emerging evidence indicates that γδT cells, as a bridge between innate and adaptive immunity, play a critical role in early anti-infection defense during sepsis. However, the functional status and underlying regulatory mechanisms of cytotoxic γδT cells in septic patients remain incompletely understood. Our preliminary single-cell transcriptomic analysis revealed that cytotoxic γδT cells from septic patients exhibit significant alterations in cytotoxicity-associated molecules (GZMB, PRF1, GNLY) and mitochondrial oxidative phosphorylation (OXPHOS) pathway genes, particularly COX6C, which correlates with cytotoxic effector molecule expression. This study aims to systematically characterize the proportion, cytotoxicity, and mitochondrial metabolic function of circulating cytotoxic γδT cells across three cohorts: healthy controls, critically ill non-septic patients, and critically ill septic patients. By integrating flow cytometry, mitochondrial function assays, and functional validation experiments, we seek to elucidate the role of COX6C-mediated mitochondrial metabolic abnormalities in cytotoxic γδT cell dysfunction, providing theoretical basis for understanding immune dysregulation in sepsis and identifying novel therapeutic targets.",[72,73,74,75,25,76,77],"Sepsis","Critical Illness","Immunosuppression","MODS","Dysbiosis","γδ T Cells","NOT_YET_RECRUITING","2026-07-01",{"date":81,"type":49},"2026-07-02",{"date":83,"type":20},"2026-07-15",{"date":85,"type":20},"2027-07-15",{"name":87,"class":56},"Union Hospital, Tongji Medical College, Huazhong University of Science and Technology",{"id":89,"slug":90,"hasResults":11,"nctId":91,"briefTitle":92,"officialTitle":93,"acronym":94,"eligibilityCriteria":95,"healthyVolunteers":11,"sex":17,"minAge":66,"maxAge":4,"enrollmentInfo":96,"targetDuration":4,"studyType":98,"phases":99,"briefSummary":101,"conditions":102,"keywords":106,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":110,"lastUpdatePostDateStruct":111,"startDateStruct":113,"completionDateStruct":115,"leadSponsor":117,"locationsCount":120},"100550798","phase-3-khenerfin-study-a-trial-to-evaluate-the-efficacy-and-safety-of-sonlicromanol-in-primary-mitochondrial-diseases-100550798","NCT06451757","KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases","A Phase III, Randomised, Double-blind, Placebo-controlled, Parallel-group, Pivotal Trial to Assess the Efficacy and Safety of Sonlicromanol in Adult Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Variant","KH176-301","Inclusion criteria\n\n1. Signed Informed Consent\n2. Males and females aged ≥18 years with a multi-system primary mitochondrial disease.\n3. A confirmed mitochondrial DNA tRNALeu(UUR) m.3243A\\>G mutation (m.3243A\\>G PMD) plus an age adjusted heteroplasmy percentage ≥ 20% in white blood cells \\[=blood heteroplasmy\u002F0.977(age+12)\\]. Or in urine (urinary epithelial cells), or buccal smear or skeletal muscle (results (obtained per local guidance) ≥ 20% must be available prior to the subject being randomized).\n4. Presence of chronic fatigue (not attributable to other etiologies than PMD):\n\n   1. Patient self-reported chronic fatigue for at least 3 months prior to the Screening Visit and recorded in the clinical patient files; AND\n   2. Presence of fatigue (raw total score \\>22), assessed by Neuro-QoL SFv1-F at Screening.\n5. Presence of mitochondrial myopathy defined as:\n\n5xSST at Screening and Baseline should be ≥ 11 seconds and participant must demonstrate the ability to complete the test at baseline (i.e., complete the test within 30 seconds).\n\n6\\. Other Inclusion criteria per protocol.\n\nExclusion criteria\n\n1. Treatment with any IMP within 3 months (or 5 times the half-life of the IMP, whichever is longer) prior to screening or plans to use an IMP (other than the study intervention) during the study.\n2. Bone deformities, motor abnormalities or chronic ulcers that in the opinion of the PI may interfere with and\u002For confound the interpretation of the subject's performance during the 5 times sit to stand test (5XSST).\n3. Surgery of gastrointestinal tract that might interfere with drug absorption. Or severe GI dysmotility, chronic vomiting, diarrhea, bouts of pseudo-obstruction which will impair appropriate IMP absorption in the opinion of the investigator.\n4. Clinically significant respiratory disease and\u002For cardiac disease (medical history or current clinical findings) in the opinion of the investigator.\n5. Prior interventional cardiac procedure (e.g., cardiac catheterization, angioplasty\u002Fpercutaneous coronary intervention, balloon valvuloplasty, etc.) within 3 months prior to screening.\n6. QTcF \\> 450 msec (men) or QTcF \\> 470 msec (women).\n7. Structural heart disease based on cardiac MRI or Echocardiography (e.g., clinically significant valve disease; i.e., aortic or mitral valve stenosis or regurgitation) and\u002For abnormal conduction (QRS \\>120 msec, PR \\\u003C 120 msec), and\u002For repolarization (QTcF \\> 450 msec (men) or QTcF \\> 470 msec (women)). Myocardial function (LVEF \\\u003C52% in men and \\\u003C 54% in women), symptomatic ischemic heart disease (inducible ischemia or coronary obstruction), and\u002For pathologic hypertrophy (e.g. \\> 15mm septal or posterior wall thickness), that is not well controlled under current specialized care. Subjects with congestive heart failure class II and above should also be excluded.\n8. Family history of unexplained\u002Funinvestigated syncope or congenital long and short QT syndrome or sudden death (under the age of 60). ECG evidence of acute or recent ischemia, acute or Recent Myocardial Infraction, atrial fibrillation, high grade AV Blocks (Second Degree AV Block Type II or Third-degree AV Block), complete Heart Block or active conduction system abnormalities with the exception of any of the following:\n\n   1. First degree atrioventricular (AV)-block\n   2. Second degree AV-block Type 1 (Mobitz Type 1\u002FWenckebach type)\n   3. Right bundle branch block.\n9. History of acute heart failure (within the last 3 months).\n10. Higher degree of AV-blocks (AVB II° or III°).\n11. Other exclusion criteria per protocol",{"count":97,"type":20},220,"INTERVENTIONAL",[100],"PHASE3","The KHENERFIN study aims to determine whether the study medicine, sonlicromanol, is able to reduce symptoms of fatigue and the impact of fatigue on daily life, and whether sonlicromanol is able to improve physical abilities of people like balance control and lower limb skeletal muscle strength in people with mitochondrial disease.\n\nIn this study, the effects of sonlicromanol are compared against a placebo, a tablet identical in appearance and taste but without the active drug. Participants take either sonlicromanol or placebo twice daily for a treatment duration of 52 weeks.\n\nIn addition to these primary objectives, the study evaluates the efficacy of sonlicromanol on secondary and exploratory outcomes, as well as its safety and tolerability after one year of treatment.",[25,103,104,105],"Maternally Inherited Diabetes and Deafness (MIDD)","Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS)","Mitochondrial DNA tRNALeu(UUR) m.3243A\u003CG Mutation",[25,107,103,105,108,109],"Oxidative Phosphorylation (OXPHOS)","Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes (MELAS)","Sonlicromanol","2026-06-25",{"date":112,"type":49},"2026-06-29",{"date":114,"type":49},"2026-04-14",{"date":116,"type":20},"2028-09",{"name":118,"class":119},"Khondrion BV","INDUSTRY",10,{"id":122,"slug":123,"hasResults":11,"nctId":124,"briefTitle":125,"officialTitle":125,"acronym":4,"eligibilityCriteria":126,"healthyVolunteers":65,"sex":17,"minAge":4,"maxAge":66,"enrollmentInfo":127,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":129,"conditions":130,"keywords":4,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":136,"lastUpdatePostDateStruct":137,"startDateStruct":139,"completionDateStruct":141,"leadSponsor":143,"locationsCount":145},"100387284","transgenerational-metabolic-immune-biomarkers-of-neurological-and-neurodevelopmental-disorders-100387284","NCT04322734","Transgenerational Metabolic-Immune Biomarkers of Neurological and Neurodevelopmental Disorders","Inclusion Criteria (ASD):\n\n1. ASD, as defined by either a gold standard measure for ASD diagnosis, the Autism Diagnostic Observation Schedule (ADOS); the Autism Diagnostic Interview-Revised (ADI-R); and\u002For a comprehensive assessment that is consistent with ASD, in the opinion of the principal investigator. For those the PI believes a prospective diagnosis of ASD is warranted, a formal diagnostic assessment will be scheduled at screening.\n2. 0 years through 17 years 11 months of age\n\nInclusion Criteria (TD, MD, Epilepsy, Brain Tumor, Psychiatric)\n\n1\\. 0 years to 17 years 11 months of age\n\nExclusion Criteria (All):\n\n1. History of a significant adverse reaction to a prior blood draw\n2. In females of reproductive age, pregnancy or plans to become pregnant\n3. Any other historical event\u002Finformation that may, in the opinion of the PI, be a reason to exclude the child from participation.",{"count":128,"type":20},500,"The study involves up to 5 visits for a fasting blood draw, behavioral assessments, and\u002For questionnaires. Other samples may be collected when appropriate.\n\nThis study is currently recruiting.\n\nThere is no cost for visits or study-related exams.",[131,132,133,134,135,25],"Autism Spectrum Disorder","Mitochondrial Pathology","Epilepsy","Brain Tumor","Psychiatric Disorder","2026-04-22",{"date":138,"type":49},"2026-04-23",{"date":140,"type":49},"2023-12-13",{"date":142,"type":20},"2028-12-31",{"name":144,"class":56},"Southwest Autism Research & Resource Center",2,{"id":147,"slug":148,"hasResults":11,"nctId":149,"briefTitle":150,"officialTitle":150,"acronym":4,"eligibilityCriteria":151,"healthyVolunteers":65,"sex":17,"minAge":66,"maxAge":4,"enrollmentInfo":152,"targetDuration":153,"studyType":22,"phases":4,"briefSummary":154,"conditions":155,"keywords":4,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":158,"lastUpdatePostDateStruct":159,"startDateStruct":161,"completionDateStruct":163,"leadSponsor":165,"locationsCount":167},"100554849","the-natural-history-of-mitochondrial-diseases-100554849","NCT06504433","The Natural History of Mitochondrial Diseases","Inclusion Criteria:\n\n1. A clinical and\u002For genetically confirmed diagnosis of MITO.\n2. Individuals \\> 18 years of age, managed by a specialist neurologist, with confirmed MITO\n3. Control participants will comprise asymptomatic relatives of confirmed MITO patients with no clinical or genetic evidence of MITO; clinically confirmed non-MITO movement disease controls (from other clinics at NeuRA) or age\u002Fgender-matched healthy participants.\n\nExclusion Criteria:\n\n* Those participants who do NOT match the inclusion criteria above\n* Not willing to participate in the AMDC Clinical Registry\n* Not willing to undergo genetic testing\n* Not willing to provide consent",{"count":128,"type":20},"10 Years","The Natural History of Mitochondrial (MITO) Diseases (a longitudinal study observing the natural history of mitochondrial diseases)\n\nThe goal of this observational study (non-randomised retrospective and prospective) is to fully characterise primary MITO disease; that includes both sexes\u002Fgenders, over 18 years of age and healthy volunteers\\]. The main question\\[s\\] it aims to answer is to:\n\n• better characterise MITO phenotypes (organ involvement, severity, progression) and collect biospecimens to create a biobank that can be used for future biomarker discovery to improve early diagnosis, prognostication and management of mitochondrial disease.\n\nThe study will be a longitudinal, retrospective, prospective, observational study of participants (400) with confirmed MITO and relevant controls followed for up to 10 years. Data will be collected at regularly scheduled standard-of-care (SOC), 6 to 12 monthly appointments.\n\nThe 100 control participants will therefore be comprised of (i) unaffected asymptomatic family members of MITO participants with no genetic risk; (ii) participants with non-MITO movement disorders that are not classified as MITO by their clinical presentation and genetic tests (for example Parkinson's disease) and\u002For (iii) age-matched healthy controls recruited from the NeuRA database of volunteers.\n\nDemographic data, medical history, biochemical, histological, genetic, social and other clinical SOC data will be collected. Additionally, seizure and migraine frequency in participants who experience these, will be collected and a quality-of-life questionnaire (SF-12v2), as part of the validated neurological assessment using the Newcastle Mitochondrial Disease Adult Scale (NMDAS).",[25,156,157],"Neurological Diseases or Conditions","Genetic Disease","2026-04-15",{"date":160,"type":49},"2026-04-20",{"date":162,"type":49},"2024-05-07",{"date":164,"type":20},"2034-05-07",{"name":166,"class":56},"Neuroscience Research Australia",1,{"id":169,"slug":170,"hasResults":11,"nctId":171,"briefTitle":172,"officialTitle":173,"acronym":174,"eligibilityCriteria":175,"healthyVolunteers":11,"sex":17,"minAge":66,"maxAge":4,"enrollmentInfo":176,"targetDuration":4,"studyType":98,"phases":178,"briefSummary":180,"conditions":181,"keywords":4,"overallStatus":78,"whyStopped":4,"lastUpdateSubmitDate":182,"lastUpdatePostDateStruct":183,"startDateStruct":185,"completionDateStruct":187,"leadSponsor":189,"locationsCount":4},"100632488","phase-2-open-label-extension-to-assess-long-term-safety-and-efficacy-of-kl1333-in-patients-with-primary-mitochondrial-disease-100632488","NCT07514338","Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease","An Open-label, Single-arm Extension Study to Evaluate the Long-term Safety, Tolerability, and Efficacy of KL1333 (Napazimone) in Patients With Primary Mitochondrial Disease","Falcon-OLE","Inclusion Criteria:\n\n* Completed the FALCON study (age 18 years or older), and in the opinion of the investigator and sponsor has been compliant with the study requirements\n* Willingness and ability to attend study appointments within the specified time windows\n* Willingness and ability to complete electronic patient-reported outcomes\n* Concomitant medications likely to remain stable throughout participation in the study where clinically possible\n* Willingness to suspend treatment with idebenone during the study\n\nExclusion Criteria:\n\n* The subject is, in the investigator's opinion, unlikely to comply with the protocol, e.g., due to cognitive impairment, or is unsuitable for any reason.\n* Any medical, psychiatric, laboratory or other condition that may negatively affect the benefit-risk considerations of study participation or interfere with the interpretation of study results and, in the judgment of the investigator and\u002For the medical monitor, would make the subject inappropriate for entry into this study.\n\nSubjects not enrolling directly at the FALCON study completion visit (FALCON Week 48) or the safety follow-up visit (FALCON Week 53) study will be required to fulfill the additional exclusion criteria below during the screening visit:\n\n• General fatigue or muscle weakness due to causes other than mitochondrial disease, in the opinion of the investigator.",{"count":177,"type":20},140,[179],"PHASE2","The purpose of this study is to investigate if the study medicine, KL1333, is safe, well-tolerated and effective long-term in improving the symptoms of fatigue and impacts on daily living and functional capacity (physical abilities) in people with PMD.",[25],"2026-03-31",{"date":184,"type":49},"2026-04-07",{"date":186,"type":20},"2026-06-09",{"date":188,"type":20},"2029-03-31",{"name":190,"class":119},"Pharming Technologies B.V.",{"id":192,"slug":193,"hasResults":11,"nctId":194,"briefTitle":195,"officialTitle":196,"acronym":197,"eligibilityCriteria":198,"healthyVolunteers":65,"sex":17,"minAge":66,"maxAge":4,"enrollmentInfo":199,"targetDuration":4,"studyType":98,"phases":201,"briefSummary":203,"conditions":204,"keywords":206,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":212,"lastUpdatePostDateStruct":213,"startDateStruct":215,"completionDateStruct":217,"leadSponsor":219,"locationsCount":167},"100627596","exercise-training-effects-on-muscle-function-in-adults-with-mitochondrial-myopathy-100627596","NCT07450690","Exercise Training Effects on Muscle Function in Adults With Mitochondrial Myopathy","Deciphering Muscle-Nerve Communication Via Mitochondrial Myopathy Insights: Exploring the Effects of Exercise Training","MM-EX","Eligibility criteria for Mitochondrial Myopathy-group:\n\nInclusion Criteria\n\n* Known mtDNA or nuclear (nDNA) mutations\n* Age above or equal to 18 years\n\nExclusion Criteria:\n\n* Medical conditions which deem the MM patient unfit to complete the study\n* Current use of medications known to interact with outcome measures. (see below)\n* Pregnancy\n* The participant is for any other reason unlikely to complete the study\n\nInclusion Criteria for healthy controls\n\n* Age above or equal to 18 years\n\nExclusion Criteria:\n\n* Chronic medical conditions suspected to influence outcome measures\n* Frequent use of medicine\n* Pregnancy\n* The participant is for any other reason unlikely to complete the study",{"count":200,"type":20},22,[202],"NA","The goal of this observational study is to learn how exercise training affects molecular processes in skeletal muscle in adults with mitochondrial myopathy, compared with healthy adults.\n\nThe main questions it aims to answer are:\n\n* How does exercise training affect mitochondrial activity and energy production pathways in skeletal muscle in people with mitochondrial myopathy?\n* How does exercise training affect molecular signals related to muscle growth, stress responses, and muscle-nerve communication in people with mitochondrial myopathy?\n\nResearchers will compare the trained leg to the untrained leg within the same participant, and also compare responses between participants with mitochondrial myopathy and healthy control participants, to see how molecular responses to exercise differ between groups.\n\nThe participants will:\n\n* Complete a 3-4-week supervised exercise training program using one leg.\n* Undergo muscle biopsies from both the trained and untrained leg.\n* Complete basic muscle strength and physical function tests.",[25,205],"Mitochondrial Myopathy",[207,208,209,210,211],"Exercise training","Mitochondrial function","Skeletal Muscle","Neuromuscular Junction","Muscle Plasticity","2026-03-01",{"date":214,"type":49},"2026-03-05",{"date":216,"type":49},"2026-01-09",{"date":218,"type":20},"2030-10-30",{"name":220,"class":56},"University of Copenhagen",{"id":222,"slug":223,"hasResults":11,"nctId":224,"briefTitle":225,"officialTitle":225,"acronym":4,"eligibilityCriteria":226,"healthyVolunteers":11,"sex":17,"minAge":227,"maxAge":228,"enrollmentInfo":229,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":230,"conditions":231,"keywords":236,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":244,"lastUpdatePostDateStruct":245,"startDateStruct":247,"completionDateStruct":249,"leadSponsor":251,"locationsCount":167},"100512919","mitochondrial-substrate-utilization-in-the-diabetic-human-heart-100512919","NCT05958706","Mitochondrial Substrate Utilization in the Diabetic Human Heart","Inclusion Criteria:\n\n* Age ≥ 20 and ≤ 85 years\n* Male and female patients with manifest heart failure (NYHA II-IV) and clinical indication for myocardial biopsy or after transplantation and clinical indication for myocardial biopsy with or without type II diabetes mellitus or terminal (NYHA IV) heart failure with or without type II diabetes mellitus.\n* Written informed consent\n\nExclusion Criteria:\n\n* Acute infectious diseases within the last 2 weeks before the examination\n* Autoimmune diseases or acute immunocompromising diseases (leukocytes \\\u003C 5000\u002Fμl)\n* Pregnancy\n* Use of alcohol or drugs (addiction), psychiatric diseases\n* Suspected or manifest AIDS (HIV); hepatitis B or C.\n* Liver disease not attributed to the presence of nonalcoholic fatty liver hepatitis or congestive hepatopathy in heart failure\n* Malignant cancer\n* Lack of capacity to give informed consent or lack of consent to participate in the study\n* For MRI study with drug stress: contraindications to the use of regadenoson, specifically: a) Hypersensitivity to the active ingredient or any of the other ingredients mentioned. b) Second- or third-degree atrioventricular (AV) block or sinus node dysfunction, unless these patients have a functioning pacemaker. c) Unstable angina that has not been stabilized with medication. d) Severe hypotension. e) Decompensated stages of heart failure.","20 Years","85 Years",{"count":128,"type":20},"Diabetes can lead to heart failure independently, but the underlying causes remain incompletely understood. The main aim of this study is to identify differential regulation of mitochondrial substrate utilization and complex activity in heart failure and type 2 diabetes mellitus (T2DM). For this, we will conduct a prospective, observational study to examine myocardial mitochondrial oxidative function and related metabolic parameters, gene expression, histological markers, and inflammation in cardiac tissue from patients with heart failure or patients after heart transplantation. We will further assess cardiac function using cardiac magnetic resonance imaging with and without stress protocols and magnetic resonance spectroscopy. Glycemic control\u002FT2DM will be characterized by oral glucose tolerance tests. The results of this project will help to better understand the cellular mechanisms of the development of diabetic cardiomyopathy and contribute to the development of early diagnostic, as well as therapeutic approaches for the prevention and treatment of diabetic cardiomyopathy.",[232,233,234,25,235],"Heart Failure","Type2diabetes","Insulin Resistance","Diabetic Cardiomyopathies",[237,238,239,240,241,242,243],"mitochondrial function","respirometry","heart failure","type 2 diabetes mellitus","insulin resistance","mitochondrial disease","diabetic cardiomyopathy","2026-02-17",{"date":246,"type":49},"2026-02-19",{"date":248,"type":49},"2021-12-01",{"date":250,"type":20},"2035-06",{"name":252,"class":56},"Heinrich-Heine University, Duesseldorf",{"id":254,"slug":255,"hasResults":11,"nctId":256,"briefTitle":257,"officialTitle":258,"acronym":4,"eligibilityCriteria":259,"healthyVolunteers":65,"sex":17,"minAge":66,"maxAge":260,"enrollmentInfo":261,"targetDuration":4,"studyType":98,"phases":263,"briefSummary":265,"conditions":266,"keywords":4,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":267,"lastUpdatePostDateStruct":268,"startDateStruct":270,"completionDateStruct":272,"leadSponsor":274,"locationsCount":167},"100369130","phase-1-validation-of-oxygen-nanosensor-in-mitochondrial-myopathy-100369130","NCT04086329","Validation of Oxygen Nanosensor in Mitochondrial Myopathy","The Development of Minimally Invasive Nanosensor Technology to Quantify Mitochondrial Function in Human Muscle","Inclusion Criteria for Healthy Controls\n\n1. Males and females, between the ages of 18 and 65 years, inclusive\n2. Provide informed consent for study participation; able to understand and complete the protocol\n3. Able to ambulate independently\n4. Able to perform bicycle ergometry\n\nInclusion Criteria for MM Cases\n\n1. Males and females, between the ages of 18 and 65 years, inclusive\n2. Provide informed consent for study participation; able to understand and complete the protocol\n3. Genetically-confirmed MM as defined by a diagnosis of primary mitochondrial disease (PMD) with predominant symptoms of myopathy as expressed by exercise intolerance and muscle weakness and fatigue.\n4. Previously enrolled (or will enroll) in Children's Hospital of Philadelphia (CHOP) Institutional Review Board (IRB) study #08-006177 (Falk, PI) or CHOP IRB #16-013364 (Zolkipli, PI)\n5. Able to ambulate independently\n6. Able to perform bicycle ergometry\n\nExclusion Criteria for All Participants\n\nSubjects will be excluded if any of the following apply:\n\n1. Unable to provide informed consent and complete all study procedures, including ergometry\n2. Non-ambulatory or unable to ambulate independently\n3. Pregnant\n4. Within 1 month of a recent hospital admission due to acute illness\n5. Have severe cardiac disease as defined by an ejection fraction of less than 35% and New York Heart Association Functional Classification Class III; or severe pulmonary disease as defined by the need for supplemental O2 therapy or daytime ventilatory support\n6. Have a tracheostomy\n7. Have a known bleeding disorder and\u002For family history (first-degree relative) with a known bleeding disorder\n8. Daily intake of aspirin or any other anti-platelet therapy which cannot be temporarily discontinued for medical reasons\n9. a) Have known or suspected congenital or acquired immune deficiency; b) concurrent use of immunosuppressive drugs, including corticosteroids; c) past history of recurrent (more than 6 times per year) severe (required hospitalization) skin or soft tissue infections; d) history of infection or delayed wound healing after surgery or biopsy; e) known history of neutropenia with absolute neutrophil count less than 500\u002Fmm3\n10. Undergo chronic steroid treatment as defined by daily oral intake (for more than 1 month) or have existing untreated endocrinopathies, such as hypothyroidism that caused acquired myopathy\n11. Prone to hypertrophic scars and keloids\n12. Have any other known inherited myopathy, such as Duchenne muscular dystrophy or congenital myopathy\n13. Known allergy to lidocaine\n14. Have a cognitive impairment that may prevent the ability to complete study procedures\n15. Unable to comply with the requirements of the study protocol and\u002For unsuitable for the study for any reason, in the opinion of the principal investigator\n16. Individuals from vulnerable populations (e.g., prisoners\u002Fdetainees)\n17. Participants who are unable to speak and\u002For read English (as participants will be required to be proficient to complete study procedures)","65 Years",{"count":262,"type":20},24,[264],"PHASE1","Past mitochondrial disease treatment studies have been unsuccessful in determining treatment efficacy, and a major factor has been the lack of validated biomarkers in mitochondrial myopathy (MM). There is currently a growing number of potential new treatments to be tested through MM clinical intervention trials, which has created a pressing need for quantitative biomarkers that reliably reflect MM disease severity, progression, and therapeutic response.\n\nThe purpose of the study is to measure the efficacy of an electrochemical oxygen nanosensor to measure in vivo mitochondrial function in human muscle tissue, and its ability to discriminate MM patients from healthy volunteers. The data and results from this nanosensor study may contribute to current and future research, including improved diagnostic and therapeutic approaches for patients with mitochondrial disease.",[39,25],"2026-02-16",{"date":269,"type":49},"2026-02-18",{"date":271,"type":49},"2023-01-17",{"date":273,"type":20},"2027-08-01",{"name":275,"class":56},"Children's Hospital of Philadelphia",{"id":277,"slug":278,"hasResults":11,"nctId":279,"briefTitle":280,"officialTitle":280,"acronym":281,"eligibilityCriteria":282,"healthyVolunteers":65,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":283,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":285,"conditions":286,"keywords":291,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":321,"lastUpdatePostDateStruct":322,"startDateStruct":324,"completionDateStruct":326,"leadSponsor":328,"locationsCount":330},"100185858","north-american-mitochondrial-disease-consortium-patient-registry-and-biorepository-namdc-100185858","NCT01694940","North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)","NAMDC","Inclusion Criteria:\n\n* Patients diagnosed with or suspected to have a mitochondrial disorder\n* Adult carriers of known mitochondrial DNA mutations\n* Patients with laboratory analysis indicative of a mitochondrial disorder.\n* Medical information and tissue samples are also accepted from deceased individuals who fulfill the above criteria.\n\nExclusion Criteria:\n\n* Patients not suspected of having a mitochondrial disorder\n* Patients not suspected of carrying a mitochondrial DNA or nuclear DNA mutation that affects mitochondrial function.",{"count":284,"type":20},1000,"The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.",[287,288,25,289,290],"Mitochondrial Disorders","Mitochondrial Genetic Disorders","Disorder of Mitochondrial Respiratory Chain Complexes","Deletion and Duplication of Mitochondrial DNA",[292,293,294,295,296,297,298,40,299,300,301,302,303,37,304,305,306,307,308,309,310,311,312,313,314,315,316,317,318,319,320],"mitochondrial disorders","Mito Disease","Mitochondria","Mitochondrial disease","Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) Syndrome","Myoclonic Epilepsy with Ragged Red Fibers (MERRF)","Leber Hereditary Optic Neuropathy (LHON)","Neuropathy, ataxia, and retinitis pigmentosa (NARP)","Kearns Sayre syndrome","Alpers Huttenlocher","Pearson","Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE)","Coenzyme Q (CoQ) Deficiency","Chronic progressive external ophthalmoplegia (CPEO)","DAD","Diabetes and Deafness","Encephalopathy","Encephalomyopathy","Familial Bilateral Striatal Necrosis (FBSN)","Hepatocerebral Disease","Leukoencephalopathy","Maternally Inherited Leigh Syndrome (MILS)","Complex I Deficiency","Complex II Deficiency","Complex III Deficiency","Complex IV Deficiency","Complex V Deficiency","mitochondrial DNA depletion syndrome","mtDNA depletion syndrome","2026-02-02",{"date":323,"type":49},"2026-02-04",{"date":325,"type":49},"2011-01-31",{"date":327,"type":20},"2026-12-31",{"name":329,"class":56},"Columbia University",17,{"id":332,"slug":333,"hasResults":11,"nctId":334,"briefTitle":335,"officialTitle":336,"acronym":4,"eligibilityCriteria":337,"healthyVolunteers":65,"sex":17,"minAge":153,"maxAge":338,"enrollmentInfo":339,"targetDuration":4,"studyType":98,"phases":341,"briefSummary":342,"conditions":343,"keywords":344,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":347,"lastUpdatePostDateStruct":348,"startDateStruct":350,"completionDateStruct":352,"leadSponsor":353,"locationsCount":167},"100482983","phase-1-applying-pgz-in-mitochondrial-disease-100482983","NCT05569122","Applying pGz in Mitochondrial Disease","The Utility of pGz in Primary Mitochondrial Disorders","Aim 1 Enrollment Criteria Inclusion Criteria for Healthy Controls\n\n* Males or females, 10 years to 60 years, with a minimum height for participation of 135 cm\n* Ambulatory and able to complete routine clinical exercise testing\n* Willing and able to complete all study procedures\n* For individuals under the age of 18, parental\u002Fguardian permission (informed consent) and as appropriate, child assent\n* For individuals over the age of 18 the ability to provide informed consent\n\nInclusion Criteria for PMD Patients\n\n* Males or females, 10 years to 60 years, with a minimum height for participation of 135 cm\n* Ambulatory and able to complete routine clinical exercise testing\n* Willing and able to complete all study procedures\n* Genetically confirmed mitochondrial myopathy (MM) as defined by a diagnosis of primary mitochondrial disease (PMD) with predominant symptoms of myopathy as expressed by exercise intolerance and muscle weakness and fatigue\n* Parental\u002Fguardian permission (informed consent) and as appropriate, child assent\n\nExclusion Criteria for All Aim 1 Participants General Exclusion Criteria\n\n* Tracheostomy\n* Non-ambulatory\n* Unable to complete routine exercise testing\n* Diagnosed with or have symptoms of vertigo\n* Within 1 month of a recent hospital admission for acute illness\n* Severe co-existing cardiac or pulmonary disease\n* Cognitive impairment that may preclude ability to comply with study procedures\n* Pregnant or lactating females\n* Active alcohol and\u002For substance abuse\n* At the discretion of the principal investigator (PI), any medical condition that will interfere with or prevent the safe completion of the study\n* Parents\u002Fguardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures\n* Use of investigational agent(s) within 4 weeks\n* Individuals who are employed by the U.S. Department of Defense, including U.S military personal\n* Patients with biliary atresia with asplenia or polysplenia.\n* Patients with prior liver transplant.\n* Patients with cystic fibrosis.\n* Patients with chronic lung disease.\n* Patients with portal vein thrombosis, cavernous transformation of the portal vein or absent portal vein.\n* Patients with significant heart disease or severe congenital heart disease.\n* Patients with a history of allergic reaction to Lumason®, sulfur hexafluoride, sulfur hexafluoride lipid microsphere components, or other ingredients in Lumason (polyethylene glycol, distearoylphosphatidlycholine (DSPC), dipalmitoylphosphatidylglycerol sodium (DPPG-Na, palmitic acid) or other components of the ultrasound contrast agent\n* Any history of intraocular injury or fragment in or around the orbit that cannot be cleared through radiologic evaluation\n* Any history of bullet, shrapnel, or stabbing wounds that cannot be cleared through radiologic evaluation\n* Past or current employment involving (or exposure to) a metal grinder (e.g., at a construction worksite)\n* Claustrophobia or any known medical conditions which can be exacerbated by stress, anxiety, or panic attacks triggered by enclosed spaces\n* Inability to lie flat in an MRI scanner for up to 45 minutes\n* Unable to perform sub-maximal ankle dorsiflexion leg exercise during the MRI study\n\nAim 2 Enrollment Criteria Inclusion Criteria for PICU PMD Non-Ambulatory Patients\n\n* Males or females ages 10 to 23 years (children and adults)\n* Non-ambulatory\n* Genetically confirmed mtDNA-PMD\n* Cooperative and capable of following research procedures\n* Have cognitive ability to enable cooperation with study procedures\n* Admitted to the PICU with an anticipated length of stay for \\>24 hours\n* Willing and able to complete all study procedures\n* For individuals under the age of 18, parental\u002Fguardian permission (informed consent) and as appropriate, child assent\n* For individuals over the age of 18 the ability to provide informed consent\n\nInclusion Criteria for PICU non-PMD neuromuscular diagnosis\n\n* Males or females ages 10 to 23 years (children and adults)\n* Non-ambulatory\n* Genetically confirmed non-PMD neuromuscular diagnosis\n* Cooperative and capable of following research procedures\n* Have cognitive ability to enable cooperation with study procedures\n* Admitted to the PICU with an anticipated length of stay for \\>24 hours\n* For individuals under the age of 18, parental\u002Fguardian permission (informed consent) and as appropriate, child assent\n* For individuals over the age of 18 the ability to provide informed consent\n\nInclusion Criteria for all other PICU Participants\n\n* Males or females ages 10 to 23 years (children and adults)\n* Non-ambulatory\n* No known genetic diagnosis with healthy pre-morbid status, admitted to PICU\n* Cooperative and capable of following research procedures\n* Have cognitive ability to enable cooperation with study procedures\n* Admitted to the PICU with an anticipated length of stay for \\>24 hours\n* Willing and able to complete all study procedures\n* For individuals under the age of 18, parental\u002Fguardian permission (informed consent) and as appropriate, child assent\n* For individuals over the age of 18 the ability to provide informed consent\n\nExclusion Criteria for All Aim 2 Participants\n\n* Have cognitive impairment that may preclude ability to comply with study procedures\n* Have cardiorespiratory instability\n* Patients in whom are so sick that they will not be able to cooperate with the study procedures\n* Have clear contraindications to mobilization\n* Have fixed lower limb deformities\u002Fcontractures that would prohibit lower extremity exercise\n* Pregnant or lactating females\n* Active alcohol and\u002For substance abuse\n* At the discretion of the principal investigator (PI), any medical condition that will interfere with or prevent the safe completion of the study\n* Use of investigational agent(s) within 4 weeks\n* Individual who are employed by the U.S. Department of Defense, including U.S military personal\n* Patients with biliary atresia with asplenia or polysplenia.\n* Patients with prior liver transplant.\n* Patients with cystic fibrosis.\n* Patients with chronic lung disease.\n* Patients with portal vein thrombosis, cavernous transformation of the portal vein or absent portal vein.\n* Patients with significant heart disease or severe congenital heart disease.\n* Patients with a history of allergic reaction to Lumason®, sulfur hexafluoride, sulfur hexafluoride lipid microsphere components, or other ingredients in Lumason (polyethylene glycol, distearoylphosphatidlycholine (DSPC), dipalmitoylphosphatidylglycerol sodium (DPPG-Na, palmitic acid) or other components of the ultrasound contrast agent\n\nExclusion Criteria Specific to study procedure: CrCEST MRI Scan:\n\n* Any history of intraocular injury or fragment in or around the orbit that cannot be cleared through radiologic evaluation\n* Any history of bullet, shrapnel, or stabbing wounds that cannot be cleared through radiologic evaluation\n* Past or current employment involving (or exposure to) a metal grinder (e.g., at a construction worksite)\n* Claustrophobia or any known medical conditions which can be exacerbated by stress, anxiety, or panic attacks triggered by enclosed spaces\n* Inability to lie flat in an MRI scanner for up to 45 minutes\n* Unable to perform sub-maximal ankle dorsiflexion leg exercise during the MRI study","60 Years",{"count":340,"type":20},90,[264],"This is a multi-aim study, studying the effects of conventional exercise (measured through Cardiopulomary Exercises Testing or an in-bed pedal exercise) and passive exercise through periodic acceleration (pGz). Aim 1 will focus on the differences between primary mitochondrial disease (PMD) patients and healthy volunteers. Aim 2 is an exploratory aim, which will be studying the effects in patients admitted to the Children's Hospital of Philadelphia Pediatric Intensive Care Unit (PICU).",[39,25],[345,346],"Passive Exercise","periodic acceleration","2025-11-05",{"date":349,"type":49},"2025-11-10",{"date":351,"type":49},"2023-03-22",{"date":116,"type":20},{"name":275,"class":56},{"id":355,"slug":356,"hasResults":11,"nctId":357,"briefTitle":358,"officialTitle":358,"acronym":4,"eligibilityCriteria":359,"healthyVolunteers":11,"sex":360,"minAge":4,"maxAge":4,"enrollmentInfo":361,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":363,"conditions":364,"keywords":4,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":365,"lastUpdatePostDateStruct":366,"startDateStruct":368,"completionDateStruct":370,"leadSponsor":372,"locationsCount":167},"100371213","mitochondrial-donation-an-18-month-outcome-study-100371213","NCT04113447","Mitochondrial Donation: An 18 Month Outcome Study.","Inclusion Criteria:\n\nWomen will only be eligible if they meet all of the following criteria.\n\n* Women with confirmed mtDNA mutation\n* Suitable to undergo Mitochondrial Donation as a treatment (in line with HFEA license)\n* Informed Consent for the study obtained before Mitochondrial Donation treatment commences\n* Ability and willingness to adhere to the protocol including evaluation schedule\n* Willingness to make available information collected during pregnancy, delivery and up to the child's age of 18 months (corrected for gestational age)\n\nExclusion Criteria:\n\nWomen will not be eligible if they meet any of the following criteria\n\n* Declined Mitochondrial Donation as a treatment (in line with HFEA license)\n* Inability or unwillingness to adhere to the protocol including evaluation schedule\n* Unwillingness to make available information collected during pregnancy, delivery and up to the child's age of 18 months (corrected for gestational age)","FEMALE",{"count":362,"type":20},25,"The Investigator proposes to record the fetal and postnatal development of children conceived using Mitochondrial Donation (MD) and to perform expert assessment of development at 18 months (corrected for gestational age) using the internationally validated Bayley-III developmental assessment tool.",[25],"2025-07-16",{"date":367,"type":49},"2025-07-20",{"date":369,"type":49},"2017-11-01",{"date":371,"type":20},"2027-11-30",{"name":373,"class":56},"Newcastle-upon-Tyne Hospitals NHS Trust",{"id":375,"slug":376,"hasResults":11,"nctId":377,"briefTitle":378,"officialTitle":379,"acronym":4,"eligibilityCriteria":380,"healthyVolunteers":11,"sex":17,"minAge":381,"maxAge":66,"enrollmentInfo":382,"targetDuration":4,"studyType":98,"phases":384,"briefSummary":385,"conditions":386,"keywords":387,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":392,"lastUpdatePostDateStruct":393,"startDateStruct":395,"completionDateStruct":397,"leadSponsor":399,"locationsCount":167},"100517463","phase-2-evaluate-the-safety-and-therapeutic-effects-of-a-single-intravenous-infusion-iv-of-autologous-cd34-cells-enriched-with-allogenic-placenta-derived-mitochondria-in-patients-with-a-diagnosis-of-pearson-syndrome-ps-100517463","NCT06017869","Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS)","PHASE II, OPEN LABEL, SINGLE DOSE STUDY OF THE SAFETY AND EFFICACY OF MNV-201 FOR THE TREATMENT OF PEARSON SYNDROME","Inclusion Criteria:\n\n1. Male or female participants aged from 1 to 18 years old.\n2. Diagnosis of Pearson Syndrome (current or history) as verified by molecular identification of deletion in mtDNA of peripheral blood. Participants are diagnosed with PS Participant can be in either the PS manifestations of the disease or may have transitioned to Kearns Sayre Syndrome (KSS) manifestations but has a history of PS.\n3. Participants have failure to thrive (height SDS smaller than -1)\n4. Participants should have at least 12 months' history of body weight and height and calculated GFR (from creatinine) before treatment.\n5. Body weight ≥ 10 kg.\n6. Participants' living parent(s) and\u002For legal guardian(s) able to understand and provide voluntary written informed consent.\n7. Participants' parents or legal guardian have a good understanding of the study and nature of the procedure and are expected to be able to comply with study visit schedules and caregiver assessments without difficulty.\n8. Participants' parents or legal guardian provides written informed consent prior to study participation.\n9. Participants are medically able to undergo the study interventions as determined by the Investigator.\n\nExclusion criteria:\n\n1. History of infection with HIV-1, HIV-2, or HTLV I\u002FII.\n2. Participants have any active infection.\n3. Participants have been diagnosed with Myelodysplastic Syndrome, by FISH and\u002For karyotype.\n4. Participants are unable to undergo apheresis.\n5. Participants have known hypersensitivity to murine proteins or iron-dextran.\n6. Participants have severe chronic infection.\n7. Participants have disease or conditions that may risk the participant or interfere with the ability to interpret the study results.\n8. History of malignancy.\n9. History of treatment with gene therapy, allogeneic bone marrow or cord blood transplantation.\n10. Participants have had a change in growth hormone regimen in less than 2 years prior to treatment.\n11. Participants have participated in another clinical trial or received other experimental medications outside a clinical trial within 1 month prior to start of this study.\n12. Participants who are pregnant or intend to become pregnant in the next 12 months.\n13. In the opinion of the Investigator, the participant is unsuitable for participating in the study for any reason.","1 Year",{"count":383,"type":20},6,[179],"Primary Mitochondrial diseases are a clinically and genetically heterogeneous group of disorders caused by mutations in genes encoded by nuclear Deoxyribonucleic Acid (DNA) or by mutations and\u002For deletions in the mitochondrial DNA (mtDNA). While some mitochondrial disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy \\[LHON\\]), many involve multiple organs. Mitochondrial disorders may present at any age and a frequent feature is the increasing number of organs involved in the course of the disease.\n\nMinovia Therapeutics Ltd. (\"Minovia\") is a biotech company developing novel therapeutics based on its mitochondrial augmentation technology (MAT). MNV-201 is a cell therapy produced by MAT that consists of the participant's autologous CD34+ hematopoietic stem and progenitor cells (HSPCs) enriched with allogeneic placental-derived mitochondria, manufactured in Minovia's GMP facility.",[25,41],[388,389,302,390,391],"Autologous","Mitochondrial","Transplantation","Stem cell","2025-06-17",{"date":394,"type":49},"2025-06-22",{"date":396,"type":49},"2023-07-31",{"date":398,"type":20},"2027-12",{"name":400,"class":119},"Minovia Therapeutics Ltd.",{"id":402,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":403,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":404,"keywords":405,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":406,"lastUpdatePostDateStruct":407,"startDateStruct":409,"completionDateStruct":410,"leadSponsor":411,"locationsCount":412},"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":408,"type":49},"2025-06-05",{"date":51,"type":49},{"date":53,"type":20},{"name":55,"class":56},18,{"id":414,"slug":415,"hasResults":11,"nctId":416,"briefTitle":417,"officialTitle":418,"acronym":419,"eligibilityCriteria":420,"healthyVolunteers":11,"sex":17,"minAge":421,"maxAge":338,"enrollmentInfo":422,"targetDuration":4,"studyType":98,"phases":424,"briefSummary":425,"conditions":426,"keywords":431,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":438,"lastUpdatePostDateStruct":439,"startDateStruct":441,"completionDateStruct":443,"leadSponsor":445,"locationsCount":167},"100424116","phase-2-deoxynucleosides-pyrimidines-as-treatment-for-mitochondrial-depletion-syndrome-100424116","NCT04802707","Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome","A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders","dC-dT-MDS","Inclusion Criteria:\n\n* Children \\& Adults (0 -60 Y)\n* Written informed consent obtained,\n* Clinical Diagnosis of a Mitochondrial Depletion Disorder.\n* Pathogenic variant(s) Homozygote and Heterozygote in one of the following genes: POLG, POLG2, C10orf2, RRM2B, MPV17, SUCLA2, SUCLG1, FBXL4, DTYMK\n* Females of childbearing age:\n\nNegative urinary pregnancy test at screening Agree to use effective contraception for the duration of the study\n\nExclusion Criteria:\n\n* Inability of a parent or legal guardian to give informed consent for any reason\n* Chronic severe diarrhea","1 Month",{"count":423,"type":20},200,[179],"Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by a severe reduction in mtDNA content leading to impaired energy production in affected tissues and organs. MDS are due to defects in mtDNA maintenance caused by mutations in nuclear genes that function in either mitochondrial nucleotide synthesis. MDS are phenotypically heterogeneous and usually classified as myopathic, encephalomyopathic, hepatocerebral or neurogastrointestinal.\n\nNo efficacious therapy is available for any of these disorders. Affected individuals should have a comprehensive evaluation to assess the degree of involvement of different systems. Treatment is directed mainly toward providing symptomatic management. No treatment for MDS.\n\nClinical trials studies and in vitro\u002Fin vivo research studies showed that the enhancement of the salvage pathway by increasing the availability of deoxyribonucleosides needed for each specific genetic defect prevents mtDNA depletion.\n\nEarly recognition and immediate therapy to restore mitochondrial function could potentially improve clinical course.\n\nConfirming the benefit of deoxynucleosides as a safe and potentially efficacious therapy, will lead to the availability of the first specific and effective treatment for Mitochondria Depletion Disorders.\n\nIn this phase II Trial a mix of Deoxynucleosides Pyrimidine (Deoxycytidine dC and Deoxythymidine dT) will be used as early treatment of MDS.\n\nThe dose used has been already used in other clinical trials, and appears to effective and well-tolerated. The subjects included are children (0-18Y), with positive MDS diagnosis and express mutations in one of the following genes: POLG, POLG2, C10orf2, RRM2B, MPV17, SUCLA2, SUCLG1, FBXL4, DTYMK. Subjects with MDS expressing neurological phenotypes dysfunction.",[25,427,428,429,430],"Mitochondrial Encephalomyopathy","Mitochondrial Encephalopathy","Mitochondrial DNA Depletion","Mitochondrial Metabolism Disorders",[432,433,434,435,294,436,437],"Deoxycytidine","Deoxythymidine","Deoxynucleoside","Pyrimidine","mtDNA","Depletion","2025-05-27",{"date":440,"type":49},"2025-05-31",{"date":442,"type":49},"2021-10-18",{"date":444,"type":20},"2029-12-30",{"name":446,"class":56},"Kenneth Myers, MD",{"id":448,"slug":449,"hasResults":11,"nctId":450,"briefTitle":451,"officialTitle":452,"acronym":453,"eligibilityCriteria":454,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":455,"targetDuration":457,"studyType":22,"phases":4,"briefSummary":458,"conditions":459,"keywords":800,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":843,"lastUpdatePostDateStruct":844,"startDateStruct":846,"completionDateStruct":848,"leadSponsor":850,"locationsCount":145},"100193378","rare-disease-patient-registry--natural-history-study---coordination-of-rare-diseases-at-sanford-100193378","NCT01793168","Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford","Coordination of Rare Diseases at Sanford","CoRDS","Inclusion Criteria:\n\n* Diagnosis of a rare disease, a disease of unknown prevalence, undiagnosed or an unaffected carrier of a rare\u002Funcommon disease\n\nExclusion Criteria:\n\n* Diagnosis of a disease which is not rare",{"count":456,"type":20},20000,"100 Years","CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org\u002FCoRDS to enroll.",[460,461,462,463,464,465,466,467,468,469,470,471,472,473,474,475,476,477,478,479,480,481,482,483,484,485,486,487,488,489,490,491,492,493,494,495,496,497,498,499,500,501,502,503,504,505,506,507,508,509,510,511,512,513,514,515,516,517,518,519,520,521,522,523,524,525,526,527,528,529,530,531,532,533,534,535,536,537,538,539,540,541,542,543,544,545,546,547,548,549,550,551,552,553,554,555,556,557,558,559,560,561,562,563,564,565,566,567,568,569,570,571,572,573,574,575,576,577,578,579,580,581,582,583,584,585,586,587,588,589,590,591,30,592,593,594,595,596,597,598,599,40,600,601,602,603,604,605,606,607,608,609,610,611,612,613,614,615,616,617,618,619,620,621,622,623,624,625,626,627,628,629,630,631,632,633,634,635,636,637,638,639,640,641,642,643,644,645,646,647,648,649,650,651,652,653,654,655,656,657,658,659,660,661,662,663,664,665,666,667,668,669,670,671,672,673,674,675,676,677,678,679,680,681,682,683,684,685,686,687,688,689,690,691,692,693,694,695,696,697,698,699,700,701,702,703,704,705,706,707,708,709,710,711,712,713,714,715,716,717,718,719,720,721,722,723,724,725,726,727,728,729,730,731,732,733,734,735,736,737,738,739,740,741,742,743,744,745,746,747,748,749,750,751,752,753,754,755,756,757,758,759,760,25,761,762,763,764,765,766,767,768,769,770,771,772,773,774,775,776,777,778,779,780,781,782,783,784,785,786,787,788,789,790,791,792,793,794,795,796,797,798,799],"Rare Disorders","Undiagnosed Disorders","Disorders of Unknown Prevalence","Cornelia De Lange Syndrome","Prenatal Benign Hypophosphatasia","Perinatal Lethal Hypophosphatasia","Odontohypophosphatasia","Adult Hypophosphatasia","Childhood-onset Hypophosphatasia","Infantile Hypophosphatasia","Hypophosphatasia","Kabuki Syndrome","Bohring-Opitz Syndrome","Narcolepsy Without Cataplexy","Narcolepsy-cataplexy","Hypersomnolence Disorder","Idiopathic Hypersomnia Without Long Sleep Time","Idiopathic Hypersomnia With Long Sleep Time","Idiopathic Hypersomnia","Kleine-Levin Syndrome","Kawasaki Disease","Leiomyosarcoma","Leiomyosarcoma of the Corpus Uteri","Leiomyosarcoma of the Cervix Uteri","Leiomyosarcoma of Small Intestine","Acquired Myasthenia Gravis","Addison Disease","Hyperacusis (Hyperacousis)","Juvenile Myasthenia Gravis","Transient Neonatal Myasthenia Gravis","Williams Syndrome","Lyme Disease","Myasthenia Gravis","Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome)","Isolated Klippel-Feil Syndrome","Frasier Syndrome","Denys-Drash Syndrome","Beckwith-Wiedemann Syndrome","Emanuel Syndrome","Isolated Aniridia","Axenfeld-Rieger Syndrome","Aniridia-intellectual Disability Syndrome","Aniridia - Renal Agenesis - Psychomotor Retardation","Aniridia - Ptosis - Intellectual Disability - Familial Obesity","Aniridia - Cerebellar Ataxia - Intellectual Disability","Aniridia - Absent Patella","Aniridia","Peters Anomaly - Cataract","Peters Anomaly","Potocki-Shaffer Syndrome","Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11","Silver-Russell Syndrome Due to Imprinting Defect of 11p15","Silver-Russell Syndrome Due to 11p15 Microduplication","Syndromic Aniridia","WAGR Syndrome","Wolf-Hirschhorn Syndrome","4p16.3 Microduplication Syndrome","4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome","Autosomal Recessive Stickler Syndrome","Stickler Syndrome Type 2","Stickler Syndrome Type 1","Stickler Syndrome","Mucolipidosis Type 4","X-linked Spinocerebellar Ataxia Type 4","X-linked Spinocerebellar Ataxia Type 3","X-linked Intellectual Disability - Ataxia - Apraxia","X-linked Progressive Cerebellar Ataxia","X-linked Non Progressive Cerebellar Ataxia","X-linked Cerebellar Ataxia","Vitamin B12 Deficiency Ataxia","Toxic Exposure Ataxia","Unclassified Autosomal Dominant Spinocerebellar Ataxia","Thyroid Antibody Ataxia","Sporadic Adult-onset Ataxia of Unknown Etiology","Spinocerebellar Ataxia With Oculomotor Anomaly","Spinocerebellar Ataxia With Epilepsy","Spinocerebellar Ataxia With Axonal Neuropathy Type 2","Spinocerebellar Ataxia Type 8","Spinocerebellar Ataxia Type 7","Spinocerebellar Ataxia Type 6","Spinocerebellar Ataxia Type 5","Spinocerebellar Ataxia Type 4","Spinocerebellar Ataxia Type 37","Spinocerebellar Ataxia Type 36","Spinocerebellar Ataxia Type 35","Spinocerebellar Ataxia Type 34","Spinocerebellar Ataxia Type 32","Spinocerebellar Ataxia Type 31","Spinocerebellar Ataxia Type 30","Spinocerebellar Ataxia Type 3","Spinocerebellar Ataxia Type 29","Spinocerebellar Ataxia Type 28","Spinocerebellar Ataxia Type 27","Spinocerebellar Ataxia Type 26","Spinocerebellar Ataxia Type 25","Spinocerebellar Ataxia Type 23","Spinocerebellar Ataxia Type 22","Spinocerebellar Ataxia Type 21","Spinocerebellar Ataxia Type 20","Spinocerebellar Ataxia Type 2","Spinocerebellar Ataxia Type 19\u002F22","Spinocerebellar Ataxia Type 18","Spinocerebellar Ataxia Type 17","Spinocerebellar Ataxia Type 16","Spinocerebellar Ataxia Type 15\u002F16","Spinocerebellar Ataxia Type 14","Spinocerebellar Ataxia Type 13","Spinocerebellar Ataxia Type 12","Spinocerebellar Ataxia Type 11","Spinocerebellar Ataxia Type 10","Spinocerebellar Ataxia Type 1 With Axonal Neuropathy","Spinocerebellar Ataxia Type 1","Spinocerebellar Ataxia - Unknown","Spinocerebellar Ataxia - Dysmorphism","Non Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Spasticity-ataxia-gait Anomalies Syndrome","Spastic Ataxia With Congenital Miosis","Spastic Ataxia - Corneal Dystrophy","Spastic Ataxia","Rare Hereditary Ataxia","Rare Ataxia","Recessive Mitochondrial Ataxia Syndrome","Progressive Epilepsy and\u002For Ataxia With Myoclonus as a Major Feature","Posterior Column Ataxia - Retinitis Pigmentosa","Post-Stroke Ataxia","Post-Head Injury Ataxia","Post Vaccination Ataxia","Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract","Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus","Non-hereditary Degenerative Ataxia","Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity","Olivopontocerebellar Atrophy - Deafness","Myoclonus - Cerebellar Ataxia - Deafness","Multiple System Atrophy, Parkinsonian Type","Multiple System Atrophy, Cerebellar Type","Multiple System Atrophy","Maternally-inherited Leigh Syndrome","Machado-Joseph Disease Type 3","Machado-Joseph Disease Type 2","Machado-Joseph Disease Type 1","Late-onset Ataxia With Dementia","Infection or Post Infection Ataxia","GAD Ataxia","Hereditary Episodic Ataxia","Gliadin\u002FGluten Ataxia","Friedreich Ataxia","Fragile X-associated Tremor\u002FAtaxia Syndrome","Familial Paroxysmal Ataxia","Exposure to Medications Ataxia","Episodic Ataxia With Slurred Speech","Episodic Ataxia Unknown Type","Episodic Ataxia Type 7","Episodic Ataxia Type 6","Episodic Ataxia Type 5","Episodic Ataxia Type 4","Episodic Ataxia Type 3","Episodic Ataxia Type 1","Epilepsy and\u002For Ataxia With Myoclonus as Major Feature","Early-onset Spastic Ataxia-neuropathy Syndrome","Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity","Early-onset Cerebellar Ataxia With Retained Tendon Reflexes","Early-onset Ataxia With Dementia","Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia","Dilated Cardiomyopathy With Ataxia","Cataract - Ataxia - Deafness","Cerebellar Ataxia, Cayman Type","Cerebellar Ataxia With Peripheral Neuropathy","Cerebellar Ataxia - Hypogonadism","Cerebellar Ataxia - Ectodermal Dysplasia","Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss","Brain Tumor Ataxia","Brachydactyly - Nystagmus - Cerebellar Ataxia","Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia","Autosomal Recessive Syndromic Cerebellar Ataxia","Autosomal Recessive Spastic Ataxia With Leukoencephalopathy","Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay","Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria","Autosomal Recessive Spastic Ataxia","Autosomal Recessive Metabolic Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine","Autosomal Recessive Ataxia, Beauce Type","Autosomal Recessive Ataxia Due to Ubiquinone Deficiency","Autosomal Recessive Ataxia Due to PEX10 Deficiency","Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia","Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency","Autosomal Recessive Congenital Cerebellar Ataxia","Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency","Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome","Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity","Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency","Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect","Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion","Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation","Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness","Autosomal Recessive Cerebellar Ataxia","Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly","Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation","Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy","Autosomal Dominant Spastic Ataxia Type 1","Autosomal Dominant Spastic Ataxia","Autosomal Dominant Optic Atrophy","Ataxia-telangiectasia Variant","Ataxia-telangiectasia","Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy","Autosomal Dominant Cerebellar Ataxia Type 4","Autosomal Dominant Cerebellar Ataxia Type 3","Autosomal Dominant Cerebellar Ataxia Type 2","Autosomal Dominant Cerebellar Ataxia Type 1","Autosomal Dominant Cerebellar Ataxia","Ataxia-telangiectasia-like Disorder","Ataxia With Vitamin E Deficiency","Ataxia With Dementia","Ataxia - Oculomotor Apraxia Type 1","Ataxia - Other","Ataxia - Genetic Diagnosis - Unknown","Acquired Ataxia","Adult-onset Autosomal Recessive Cerebellar Ataxia","Alcohol Related Ataxia","Multiple Endocrine Neoplasia","Multiple Endocrine Neoplasia Type II","Multiple Endocrine Neoplasia Type 1","Multiple Endocrine Neoplasia Type 2","Multiple Endocrine Neoplasia, Type IV","Multiple Endocrine Neoplasia, Type 3","Multiple Endocrine Neoplasia (MEN) Syndrome","Multiple Endocrine Neoplasia Type 2B","Multiple Endocrine Neoplasia Type 2A","Atypical Hemolytic Uremic Syndrome","Atypical HUS","Wiedemann-Steiner Syndrome","Breast Implant-Associated Anaplastic Large Cell Lymphoma","Autoimmune\u002FInflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis","Behcet's Disease","Alagille Syndrome","Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia (IBMPFD)","Lowe Syndrome","Pitt Hopkins Syndrome","1p36 Deletion Syndrome","Jansen Type Metaphyseal Chondrodysplasia","Cockayne Syndrome","Chronic Recurrent Multifocal Osteomyelitis","CRMO","Malan Syndrome","Hereditary Sensory and Autonomic Neuropathy Type Ie","VCP Disease","Hypnic Jerking","Sleep Myoclonus","Mollaret Meningitis","Recurrent Viral Meningitis","CRB1","Leber Congenital Amaurosis","Retinitis Pigmentosa","Rare Retinal Disorder","KCNMA1-Channelopathy","Primary Biliary Cirrhosis","ZMYND11","Transient Global Amnesia","Glycogen Storage Disease","Alstrom Syndrome","White Sutton Syndrome","DNM1","EIEE31","Myhre Syndrome","Recurrent Respiratory Papillomatosis","Laryngeal Papillomatosis","Tracheal Papillomatosis","Refsum Disease","Nicolaides Baraitser Syndrome","Leukodystrophy","Tango2","Cauda Equina Syndrome","Rare Gastrointestinal Disorders","Achalasia-Addisonian Syndrome","Achalasia Cardia","Achalasia Icrocephaly Syndrome","Anal Fistula","Congenital Sucrase-Isomaltase Deficiency","Eosinophilic Gastroenteritis","Idiopathic Gastroparesis","Hirschsprung Disease","Rare Inflammatory Bowel Disease","Intestinal Pseudo-Obstruction","Scleroderma","Short Bowel Syndrome","Sacral Agenesis","Sacral Agenesis Syndrome","Caudal Regression","Scheuermann Disease","SMC1A Truncated Mutations (Causing Loss of Gene Function)","Cystinosis","Juvenile Nephropathic Cystinosis","Nephropathic Cystinosis","Kennedy Disease","Spinal Bulbar Muscular Atrophy","Warburg Micro Syndrome","Mucolipidoses","Mitochondrial Aminoacyl-tRNA Synthetases","Mt-aaRS Disorders","Hypertrophic Olivary Degeneration","Non-Ketotic Hyperglycinemia","Fish Odor Syndrome","Halitosis","Isolated Congenital Asplenia","Lambert Eaton (LEMS)","Biliary Atresia","STAG1 Gene Mutation","Coffin Lowry Syndrome","Borjeson-Forssman-Lehman Syndrome","Blau Syndrome","Arginase 1 Deficiency","HSPB8 Myopathy","Beta-Mannosidosis","TBX4 Syndrome","DHDDS Gene Mutations","MAND-MBD5-Associated Neurodevelopmental Disorder","Constitutional Mismatch Repair Deficiency (CMMRD)","SPATA5 Disorder","SPATA5L1 Related Disorder","Acrodysostosis","Multi-systematic Smooth Muscle Dysfunction Syndrome","CRELD1 (Cysteine Rich With EGF Like Domains 1)","GNB1 Syndrome","Pyruvate Dehydrogenase Complex Deficiency Disease","Beta Mannosidosis","Kbg Syndrome","Labrune Syndrome","Metachromatic Leukodystrophy (MLD)","Moyamoya Disease","OPHN1 Syndrome","Oculopharyngeal Muscular Dystrophy (OPMD)","TUBB3 Mutation","WOREE (WWOX-related Epileptic Encephalopathy","SCAR12","Skraban-Deardorff Syndrome","Hereditary Myopathy With Early Respiratory Failure",[801,802,803,804,805,514,806,807,521,808,480,809,810,811,682,691,812,813,471,814,815,479,816,481,817,470,818,819,694,820,821,697,698,822,700,701,823,824,704,825,826,827,754,828,829,830,831,832,833,834,759,835,836,837,763,764,838,839,840,841,842],"Rare Diseases","Neglected Diseases","Orphan Diseases","Rare Disease Research","Registries","Ataxia","Cornelia de Lange Syndrome","Ataxia Telangiectasia","Batten Disease","Mucolipidosis IV","Klippel-Feil Syndrome","Undiagnosed","Uncommon Disease","Hypersomnia","Hyperacusis","Marinesco-Sjogren Syndrome","4p-\u002FWolf-Hirschhorn Syndrome","Narcolepsy","Wiedermann-Steiner Syndrome","Autoimmune\u002Finflammatory Syndrome Induced by Adjuvants (ASIA)","Hemophagocytic Lymphohistiocytosis (HLH)","Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)","1p36 deletion syndrome","Jansen metaphyseal chondrodysplasia","Chronic recurrent multifocal osteomyelitis (CRMO)","Malan syndrome","Hereditary Sensory and Autonomic Neuropathy","Juvenile nephropathic cystinosis","Nephropathic infantile cystinosis","Ocular cystinosis","Kennedy disease","Spinal Bulbar Muscular Atrophy (SBMA)","SMC1A Truncated Mutations (causing loss of gene function)","Leigh syndrome","Mucolipidosis","Mitochondrial aminoacyl-tRNA synthetases (Mt-aaRS Disorders)","Shine Syndrome","Intestinal Bromhidrosis Syndrome","Fish odor syndrome","Autosomal recessive extra oral halitosis","CACNA1H mutation","Dimethylglycine dehydrogenase deficiency","2025-05-22",{"date":845,"type":49},"2025-05-29",{"date":847,"type":49},"2010-07",{"date":849,"type":20},"2100-12",{"name":851,"class":56},"Sanford Health",{"id":853,"slug":854,"hasResults":11,"nctId":855,"briefTitle":856,"officialTitle":856,"acronym":857,"eligibilityCriteria":858,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":859,"targetDuration":4,"studyType":98,"phases":860,"briefSummary":861,"conditions":862,"keywords":4,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":863,"lastUpdatePostDateStruct":864,"startDateStruct":866,"completionDateStruct":868,"leadSponsor":870,"locationsCount":145},"100563866","combating-the-diagnostic-impasse-in-mitochondrial-diseases-a-transcriptomic-approach-in-fibroblasts-and-blood-cells-100563866","NCT06621732","Combating the Diagnostic Impasse in Mitochondrial Diseases: a Transcriptomic Approach in Fibroblasts and Blood Cells","RNAseq","Inclusion Criteria:\n\nGeneral criteria: major or minor patients, sporadic or isolated cases\n\n* Pathology-related criteria :\n\n  * Patients with suspected mitochondrial disease according to Morava criteria\n  * Identification of a predicted VSI, \"possibly pathogenic\" by SPICE and\u002For SpliceAI biοstatistical and biοinfοrmatic prediction tools, in a gene :\n* Compatible with the patient's phenotype\n* With sufficient expression in blood (TPM\\>1, GTEX) predicted as \"possibly pathogenic\" by SPICE and\u002For SpliceAI biοstatistical and biοinfοrmatic prediction tools.\n* Signature of informed consent, for minor patients signature of at least one of the 2 parents or the representative of parental authority\n\nExclusion Criteria:\n\n* Patient whose identified VSI is in the same gene as a patient already included in the study;\n* Persons deprived of liberty by judicial or administrative decision;\n* Persons hospitalized without consent;\n* Persons of full age or minors under legal protection or unable to express their consent;\n* Inability of the subject to cooperate.",{"count":120,"type":20},[202],"Next-generation sequencing (NGS), and in particular whole exome sequencing (WES) or genome sequencing (WGS), has enabled a significant technical advance that has considerably improved genetic diagnostics. However, around 50% of patients still remain undiagnosed and are in diagnostic limbo. One of the causes of this is pathogenic variants that modify transcript expression and\u002For RNA splicing. These variants may be located in deep intronic or intergenic regions, or in the coding sequence, synonymous or missense variants, also having pathogenic consequences on splicing or gene expression. It is very often difficult to interpret the pathogenicity of these variants, which often remain variants of uncertain significance (VSI). The usefulness of transcriptome sequencing (RNA-seq) in the genetic diagnosis of MM has been demonstrated in recent years by several teams with diagnostic yields of 10% to 35%. These studies are ideally performed using muscle tissue, as MMs are most often expressed in tissues with high energy metabolism such as muscle, heart, brain or liver. However, as biopsies of these tissues are difficult to obtain, most transcript studies are performed using fibroblasts obtained from skin biopsies. Indeed, extreme regulatory defects such as loss of expression or aberrant splicing can be detected in fibroblasts, even though the physiological consequence on fibroblasts may be negligible. However, some patients also refuse these biopsies and may remain in diagnostic limbo in the absence of functional analysis to confirm the pathogenicity of the variants identified. RNA studies can also be performed using RNA extracted from blood cells on PAXGene tubes. The quantity of RNA extracted is lower than that extracted from fibroblasts, but this type of analysis avoids a more invasive procedure, saves technical time by avoiding the manips associated with cell culture, and saves time for the patient by enabling immediate extraction from the blood tube without waiting for cell culture. Frésard et al showed in patients with 16 different Mendelian pathologies that RNA-seq on blood cells identified a diagnosis in 7.5% of patients tested. Their approach revealed both expression variations and splicing anomalies.\n\nThe investigators therefore propose to carry out a transcript study using high-throughput RNA sequencing (RNA-Seq), in parallel on RNA extracted from fibroblasts and on RNA extracted from blood cells, on 10 patients with suspected mitochondrial disease in whom variants of uncertain significance in candidate genes (VSI+) have been identified.\n\nThe investigators chose to target our study on patients with VSI+, previously identified by NGS, to facilitate interpretation of the RNA-Seq data within the framework of a \"pilot\" study. In these patients, who carry variants in candidate genes, the investigators will focus our bioinformatics analysis on these genes. For the interpretation of VSI+, a targeted approach using Sanger sequencing based on RT-PCR, or quantification of gene expression using quantitative PCR, is also feasible, but requires custom development for each variant, which is very time-consuming and not insignificantly expensive. The advantage of an RNA-seq approach is that it homogenizes the diagnostic strategy for patients, saves analysis time and therefore reduces the time spent in diagnostic wandering. Finally, the drastic reduction in the cost of NGS sequencing means that this technique could be used routinely as a complement to exome\u002Fgenome sequencing. It could therefore eventually be applied not only to patients with VSI+ but also, in the absence of evidence of potentially pathogenic variants, as an aid to filtering variants identified by WES\u002FWGS.",[25],"2025-02-26",{"date":865,"type":49},"2025-02-28",{"date":867,"type":49},"2025-01-09",{"date":869,"type":20},"2027-10",{"name":871,"class":56},"Centre Hospitalier Universitaire de Nice",{"id":873,"slug":874,"hasResults":11,"nctId":875,"briefTitle":876,"officialTitle":877,"acronym":878,"eligibilityCriteria":879,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":880,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":882,"conditions":883,"keywords":4,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":884,"lastUpdatePostDateStruct":885,"startDateStruct":887,"completionDateStruct":889,"leadSponsor":891,"locationsCount":892},"100433183","mitomics--a-multi-omics-approach-for-the-diagnosis-of-mitochondrial-diseases-100433183","NCT04920812","MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases","Interest of Multi-omics (WES \u002F RNA-Seq) Approach to Fight Against the Diagnostic Deadlock in Mitochondrial Diseases","MITOMICS","Inclusion Criteria:\n\n* Patients suspected of a mitochondrial disease with muscular signs (clinical, histological or biochemical)\n* Patients with negative mtDNA and WES NGS in trio\n* Patients with routine muscle and skin biopsies available\n* Blood samples from parents and \u002F or relatives available for segregation studies\n* Informed consent of the study signed by the patient or the legal representatives of the minor patient or under guardianship\n* Patients affiliated to social security\n\nExclusion Criteria:\n\n* Patients with suspected mitochondrial disease without muscle involvement\n* Patients for whom the mtDNA NGS and WES have not been performed\n* Patients with suspected mitochondrial disease with causal variant identified\n* Refusal to sign the informed consent for the study\n* Insufficient amount of frozen material or culture failure for fibroblasts",{"count":881,"type":20},66,"MITOMICS aims to determine which RNA-Seq results (from muscle or fibroblasts) are the most informative for the interpretation of VUS identified by WES for patients suspected of mitochondrial myopathy. Analysis of RNA-Seq and WES results will performed with a computational approach using an autoencoder-based method",[25],"2025-02-21",{"date":886,"type":49},"2025-02-25",{"date":888,"type":49},"2022-03-07",{"date":890,"type":20},"2025-09-07",{"name":871,"class":56},9,{"id":894,"slug":895,"hasResults":11,"nctId":896,"briefTitle":897,"officialTitle":898,"acronym":4,"eligibilityCriteria":899,"healthyVolunteers":11,"sex":17,"minAge":381,"maxAge":67,"enrollmentInfo":4,"targetDuration":4,"studyType":900,"phases":4,"briefSummary":901,"conditions":902,"keywords":903,"overallStatus":905,"whyStopped":4,"lastUpdateSubmitDate":906,"lastUpdatePostDateStruct":907,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":909,"locationsCount":4},"100415417","an-intermediate-size-expanded-access-protocol-of-elamipretide-100415417","NCT04689360","An Intermediate Size Expanded Access Protocol of Elamipretide","An Intermediate Size Expanded Access Protocol of Elamipretide for Subcutaneous Injection in Patients With Genetically Confirmed Rare Diseases With Known Mitochondrial Dysfunction","Key Inclusion Criteria:\n\n1. ≥1 year and ≤ 80 years of age or ≥12 years for Barth Syndrome in SPIES-007\n2. Patients with genetically confirmed rare primary mitochondrial diseases including Barth Syndrome\n\n   1. observed cardiomyopathy, renal impairment, neuropathic, or ophthalmic manifestation\n   2. where such disease is serious or life-threatening and no comparable or satisfactory alternative therapy options available.\n3. Patients without genetic confirmation of a rare disease with known mitochondrial dysfunction but do exhibit serious or life-threatening clinical manifestations of mitochondrial dysfunction.\n4. Is self-able or has caregiver willing and able to administer SC injection.\n5. Would potentially benefit from treatment with elamipretide and cannot be treated satisfactorily with any approved medicinal product in the opinion of the treating physician.\n\nKey Exclusion Criteria:\n\n1. Known hypersensitivity to elamipretide or any excipients.\n2. Women who are pregnant, are planning on becoming pregnant, or are breast-feeding.\n3. Patients receiving any other investigational agent within 30 days of dosing.\n4. Any active, serious psychiatric, medical, or other conditions\u002Fsituations which, in the treating physician's opinion, could compromise the patient's safety.","EXPANDED_ACCESS","Choosing to participate in an expanded access program is an important personal decision. Talk with your doctor to learn more about this program. The treating physician must contact StealthBiotherapeutics using the Expanded Access Program Contacts provided. Elamipretide will only be made available after careful review of an individual request submitted by the treating physician. The initiation and conduct of the treatment with elamipretide for an individual patient, and compliance with this treatment guideline, will be under the full and sole responsibility of the treating physician.",[25,37],[904],"Barth","AVAILABLE","2025-02-12",{"date":908,"type":49},"2025-02-14",{"name":910,"class":119},"Stealth BioTherapeutics Inc."]