[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"primary-mitochondrial-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:primary-mitochondrial-disease":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,47,72],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100489216","phase-2-efficacy-of-kl1333-in-adult-patients-with-primary-mitochondrial-disease-100489216",false,"NCT05650229","Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease","An Interventional, Randomised, Double-blind, Parallel-group, Placebo-controlled, Flexible-dose, Adaptive Study of the Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease","FALCON","Inclusion Criteria:\n\n* Age 18 years or older.\n* A confirmed PMD diagnosis caused by a known pathogenic gene mutation or deletion of the mitochondrial genome (category 6 of the International Classification of Inborn Metabolic Disorders \\[ICIMD\\])12 according to American College of Medical Genetics (ACMG)\u002FAssociation of Molecular Pathology (AMP) criteria1, with multisystemic disease expressions, including:\n\n  1. m.3243A\\>G associated MELAS-MIDD spectrum disorders,\n  2. single large scale mtDNA deletion associated KSS-CPEO spectrum disorders,\n  3. other multisystemic mtDNA-related disease (including MERRF).\n* Presence of chronic mitochondrial fatigue:\n\n  * History of mitochondrial fatigue for at least 3 months prior to the Screening Visit AND\n  * Presence of at least moderate level of fatigue, assessed by PROMIS® Fatigue PMD Short form raw score ≥ 27 at Screening and Baseline\n* Presence of mitochondrial myopathy defined as:\n\n  * Myopathy (proximal muscle weakness), NMDAS Section III Clinical Assessment, item 5 score ≥ 1, which reads: \"minimal reduction in hip flexion and\u002For shoulder abduction only (e.g. MRC 4+\u002F5)\". For the inclusion only hip flexion, but not shoulder abduction, should be taken into account. AND \u002F OR\n  * Exercise Tolerance: NMDAS Section I, item 9 score ≥ 1, which reads: \"unlimited on flat - symptomatic on inclines or stairs\".\n* Patients must be able to perform at least 2 repetitions and the maximal capacity must not exceed 17 repetitions in males or 16 repetitions in females in a 30s STS test at screening.\n* Clinically stable, apart from symptoms associated with the diagnosis of mitochondrial disease, at Screening and Baseline, as determined by medical history, physical examination, 12-lead ECG, vital signs measurements, and clinical laboratory evaluations at Screening, as assessed by the investigator.\n* The patient is willing and able to attend study appointments within the specified time windows.\n* Willingness and ability to complete electronic PROs.\n* Willingness to maintain a stable diet during the Screening and study periods.\n* Patients who take any mitochondrial disease-focused vitamins or supplemental therapies, including coenzyme Q10 (CoQ10), niacin\u002Fnicotinamide (vitamin B3), and L-arginine, has been on a stable dose regimen of these for 3 months prior to randomisation and intends to stay on a stable dose for the duration of the study period.\n* Willingness to suspend treatment with idebenone during the study.\n* Female patient is not pregnant and at least one of the following conditions apply:\n\n  1. Not a woman of childbearing potential (WOCBP)\n  2. WOCBP must agree not to try and become pregnant and use a highly effective method of contraception from the time of informed consent through at least 36 days (\\~5 half-lives of KL1333 plus 30 days) after the last dose of investigational medicinal product (IMP) administration.\n* Male patients with female partner(s) of childbearing potential must agree to use a male condom in addition to using highly effective contraception throughout the treatment period and for 96 days after the last dose of IMP administration. The requirement to use a male condom also applies to male patients with a pregnant or breastfeeding partner.\n* Female patients must agree not to breastfeed starting at Screening and throughout the study period and for 36 days after the last dose of IMP administration.\n* Female patients must agree to not donate ova throughout the study period and for 36 days after the last dose of IMP administration, and male patients must agree to not donate sperm throughout the study period and for 96 days after the last dose of IMP administration.\n\nExclusion Criteria:\n\n* Primary mitochondrial disease with predominant neurodegenerative phenotypes, such as, but not limited to, Leigh syndrome, Leber hereditary optic neuropathy (LHON) and Neuropathy ataxia-retinitis pigmentosa syndrome (NARP).\n* Primary mitochondrial disease nuclear DNA mutations or mutations causing mtDNA destabilisation. Genetic mtDNA variants of uncertain significance, likely pathogenic, or pathogenic mutations with degrees of heteroplasmy below what can be considered to definitely cause PMD.\n* General fatigue or muscle weakness due to causes other than mitochondrial disease, in the opinion of the investigator.\n* Significant cardiovascular disease (e.g., sustained or symptomatic arrhythmia; dilated heart chambers or reduced function; Mobitz II atrioventricular block or greater) OR abnormal ECG that is clinically significant, as determined by the investigator. Any QTcF \\> 450 msec for male patients and \\> 470 msec for female patients is exclusionary. In the case of an exclusionary QTcF, the ECG can be repeated twice and the average of 3 QTcF intervals should be used to determine the QTcF eligibility.\n* Recent history of unstable disease, inadequately controlled neurological manifestations or not recovered from stroke-like episodes including but not limited to:\n\n  1. stroke-like episodes within the last 6 months\n  2. more than 1 seizure\u002Fmonth within the last 6 months\n  3. hospitalised for Status Epilepticus within the last 6 months\n  4. more than 4 days of migraine episodes\u002Fmonth within the last 6 months\n* History of inflammatory bowel disease, gastric erosions, peptic ulcer disease, or gastrointestinal bleeding episodes. Gastroesophageal reflux disease diagnosed by objective endoscopic or radiographic means, and clinically symptomatic at any point over the last 6 months.\n* The patient has one or more clinical laboratory test values outside the reference range, based on the blood and urine samples taken at the Screening Visit, that are of potential risk to the patient's safety, or the patient has, at the Screening Visit:\n\n  * estimated glomerular filtration rate (eGFR) calculated by the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) creatinine equation \\\u003C30 mL\u002Fmin\u002F1.73 m2\n  * a serum total bilirubin value \\> 1.5 times the upper limit of the reference range unless elevation is related to Gilbert's syndrome and the investigator can rule out any underlying liver dysfunction based on other tests, the patient has a Child-Pugh score ≤6, and after discussing the case with the medical monitor\n  * a serum alanine aminotransferase (ALT) or aspartate aminotransferase (AST) value \\> 2 times the upper limit of the reference range. Values between 2 and 3 times the upper limit of the reference range may be allowed if concomitant to elevation in creatine kinase as long as the investigator can rule out any underlying liver dysfunction based on other tests, the patient has a Child-Pugh score ≤6, and after discussing the case with the medical monitor\n* The patient has, in the investigator's opinion, severe ataxia, neuropathy, balance problems or other medical condition that would interfere the evaluation of the 30s STS test.\n* Untreated or undertreated sleep apnoea, in the opinion of the investigator.\n* Use of idebenone within 14 days prior to the first dose.\n* Patients have a history of unstable or severe pulmonary, immunological, oncological, hepatic disease, renal disease, or another medically significant illness other than PMD or takes medication that could, in the investigator's opinion, interfere with the assessments of safety, tolerability, or efficacy, or interfere with the conduct or interpretation of the study.\n* The patient 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* The patient has an immediate family member (defined as family members residing at the same address) who participates in the study.\n* Female patients with a positive pregnancy result at Screening or at Baseline.\n* A patient cannot participate if they received an investigational drug 30 days or 5 half-lives prior to the Screening Visit (whichever is longer), or plans to use an investigational drug (other than the study intervention) during the study\n* Hypersensitivity to the active substance or to any of the excipients or placebo.","ALL","18 Years",{"count":20,"type":21},180,"ESTIMATED","INTERVENTIONAL",[24],"PHASE2","The primary objective of the FALCON study is to evaluate the efficacy of KL1333 on selected disease manifestations of primary mitochondrial disease (PMD) following 48 weeks of treatment. This objective involves evaluating the efficacy of KL1333 versus placebo on fatigue symptoms and impacts on daily living as well as on functional lower extremity strength and endurance. Additionally, the study evaluates the safety and tolerability of KL1333.",[27],"Primary Mitochondrial Disease",[29,30,31,32,33],"Chronic fatigue","Myopathy","Muscle weakness","Exercise intolerance","Diabetes","RECRUITING","2026-06-23",{"date":37,"type":38},"2026-06-26","ACTUAL",{"date":40,"type":38},"2022-12-13",{"date":42,"type":21},"2027-11",{"name":44,"class":45},"Pharming Technologies B.V.","INDUSTRY",55,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":51,"acronym":4,"eligibilityCriteria":52,"healthyVolunteers":53,"sex":17,"minAge":54,"maxAge":55,"enrollmentInfo":56,"targetDuration":4,"studyType":58,"phases":4,"briefSummary":59,"conditions":60,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":61,"lastUpdatePostDateStruct":62,"startDateStruct":64,"completionDateStruct":66,"leadSponsor":68,"locationsCount":71},"100584528","neurometabolic-profile-of-individuals-with-primary-mitochondrial-disease-100584528","NCT06890520","Neurometabolic Profile of Individuals With Primary Mitochondrial Disease","Inclusion Criteria:\n\n* Must be between 8 and 75 years, inclusive\n* Genetically confirmed primary mitochondrial disease\n* Receiving standard-of-care treatment including mitochondrial supplements that may include N-acetylcysteine (NAC), a precursor of glutathione\n\nInclusion Criteria for Healthy Controls:\n\n* Must be between 8 and 75 years, inclusive\n\nExclusion Criteria:\n\n* MRI contraindications\n* In the investigator's opinion, inability to fully comply with research procedures\n* Active self-reported alcohol and\u002For substance abuse, including tobacco-use\n* A pacemaker; any metal-based medical or non-medical devices\u002Fimplants; any non-removable metal-based object (e.g., body piercings, jewelry, etc.) that cannot be cleared through radiologic evaluation\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* At the discretion of the principal investigator (PI), any medical condition that will interfere with or prevent the safe completion of the study\n* Any female participant with childbearing potential who is knowingly pregnant or suspects that she is pregnant will be removed from the study. (Although there are no known risks of MRI on pregnant females or fetuses, there is a possibility of yet undiscovered pregnancy-related risks. Since there is no direct benefit from participating in this protocol for pregnant females, they will be excluded to ensure their long-term safety and that of their unborn fetus.)\n* To note, for this protocol, participants are instructed to lie still in the MRI scanner; there is no contrast or sedation. Participants who do not possess the cognitive and \u002F or physical abilities to perform these procedures will not be included.",true,"8 Years","75 Years",{"count":57,"type":21},30,"OBSERVATIONAL","Primary Mitochondrial Disease (PMD) is a genetic neurometabolic disorder, leading to central nervous system degeneration and increased risk of early mortality. There is a strong link between the pathophysiology of mitochondrial disease and biomarkers related to the biochemistry of redox imbalance, involving the levels of glutathione. Investigators will use Magnetic Resonance Imaging and Spectroscopy to non-invasively measure glutathione and other chemicals in the brain to identify redox imbalance in patients with PMD.",[27],"2026-02-04",{"date":63,"type":38},"2026-02-05",{"date":65,"type":38},"2025-02-25",{"date":67,"type":21},"2029-01-01",{"name":69,"class":70},"Children's Hospital of Philadelphia","OTHER",1,{"id":73,"slug":74,"hasResults":11,"nctId":75,"briefTitle":76,"officialTitle":76,"acronym":4,"eligibilityCriteria":77,"healthyVolunteers":53,"sex":17,"minAge":78,"maxAge":79,"enrollmentInfo":80,"targetDuration":82,"studyType":58,"phases":4,"briefSummary":83,"conditions":84,"keywords":85,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":93,"lastUpdatePostDateStruct":94,"startDateStruct":96,"completionDateStruct":98,"leadSponsor":100,"locationsCount":71},"100458496","natural-history-study-of-mitochondrial-myopathy-100458496","NCT05250375","Natural History Study of Mitochondrial Myopathy","MM Cohort Inclusion Criteria\n\n1. Males or females age 0-100 years of age\n2. Mitochondrial disorder established by confirmed genetic or biochemical mutation in mtDNA or nuclear DNA OR is suitable for participation in the opinion of the investigator based on clinical presentation.\n3. Exhibits myopathy (exercise intolerance, muscle strength, fatigue) relating to Mitochondrial disease in the opinion of the investigator\n4. Able to provide written consent OR parental permission and child assent OR if they are an adult with diminished capacity, an LAR or healthcare representative is able to and willing to provide consent ., as approved by the appropriate Institutional Review Board (IRB) or Ethics Committee (EC)\n\nMM Cohort Exclusion Criteria\n\n1. Male or female fetuses\n2. Non English speakers\n3. Parents\u002Fguardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.\n4. Subjects that do not meet all of the enrollment criteria may not be enrolled. Any violations of these criteria must be reported in accordance with IRB Policies and Procedures.\n\nHealthy Control Cohort Inclusion Criteria\n\n1. Males or females age 0-100 years of age\n2. No history of mitochondrial myopathy symptoms\n3. Able to provide written consent or parental permission and child assent., approved by the appropriate Institutional Review Board (IRB) or Ethics Committee (EC)\n4. Individual is not a study staff member or a family member of a study staff member (not listed as a study staff in eIRB)\n\nHealthy Control Exclusion Criteria\n\n1. Male or female fetuses\n2. Non English speakers\n3. Mitochondrial disorder established by confirmed genetic or biochemical mutation in mtDNA or nuclear DNA\n4. Exhibits myopathy (exercise intolerance, muscle strength, fatigue) relating to Mitochondrial disease\n5. Parents\u002Fguardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures.\n6. Individual is listed as a study staff member in eIRB, OR individual is a family member of a study staff member listed in eIRB\n7. Subjects that do not meet all of the enrollment criteria may not be enrolled. Any violations of these criteria must be reported in accordance with IRB Policies and Procedures.","0 Years","100 Years",{"count":81,"type":21},1300,"20 Years","The goal of this observational study is to develop and validate tools to measure disease course in patients with primary mitochondrial myopathy (PMM). The main aims of this study are:\n\n* Development, validation, and optimization of objective outcome measures for mitochondrial myopathy\n* Defining the natural history of mitochondrial myopathy\n\nResearchers will compare data from patients with primary mitochondrial myopathy to healthy controls. Data from healthy controls will also help define normative data for future studies.\n\nParticipants will perform clinical exams of muscle strength and endurance and will complete surveys.",[27],[86,87,88,89,90,91,92],"Mitochondrial Myopathy","Mitochondrial Disease","Healthy Volunteers","Natural History","Muscle Weakness","Fatigue","Outcome Measures","2025-09-03",{"date":95,"type":38},"2025-09-10",{"date":97,"type":38},"2017-03-24",{"date":99,"type":21},"2030-03-24",{"name":69,"class":70}]