[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"mitochondrial-myopathies\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:mitochondrial-myopathies":39},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,8,0,[8,58,84,108,130,155,183,195],{"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":64,"eligibilityCriteria":65,"healthyVolunteers":11,"sex":17,"minAge":66,"maxAge":4,"enrollmentInfo":67,"targetDuration":4,"studyType":69,"phases":70,"briefSummary":72,"conditions":73,"keywords":4,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":74,"lastUpdatePostDateStruct":75,"startDateStruct":77,"completionDateStruct":79,"leadSponsor":81,"locationsCount":83},"100465892","home-based-personalized-training-and-video-consultation-in-mitochondrial-myopathies-study-of-efficacy-and-tolerance-100465892","NCT05346627","Home Based Personalized Training and Video Consultation in Mitochondrial Myopathies: Study of Efficacy and Tolerance.","Video Consultation and Mitochondrial Myopathies: Study of Efficacy and Tolerance of a Personalized Training Program at Home","TELE-MIT","Inclusion criteria:\n\n* patient over 18 years-old,\n* with genetically-confirmed mitochondria myopathy,\n* with mitochondrial DNA mutation,\n* clinically dominant myopathic-like disorders according investigator,\n* able to walk with or without assistance,\n* likely to be followed for at least one year without interruption by video consultation (implying internet connexion with computer and camera or smartophone),\n* having given the written and informed consent and being social security member.\n* For patients in childbearing age, she must have used at least one month if reliable contraception.\n\nExclusion criteria:\n\n* patient wih pathology or comorbidity incompatible with the conduct of the study according the investigator during inclusion visit,\n* patient with physical condition incompatible with training program according investigator during inclusion visit,\n* patient having a physical tiredness and\u002For myalgia during last week with an intensity of 6 on visual and analog scale,\n* pregnant or nursing patient,\n* patient expecting pregnancy during the course of the study,\n* patient protected by law or under guardianship or curatorship, or not able to participate in a clinical trial under L.1121-16 article of French Public Health Regulations.","18 Years",{"count":68,"type":20},15,"INTERVENTIONAL",[71],"NA","Positive effect of physical activity on health arouses a strong interest at international level and is developped within the scope of national programs. Recommandations exist but must be designed for patients with functional limitations of activities.\n\nPatients with mitochondrial diseases have exercice intolerance with an increase of muscular weakness and fatigue after low exercice volume. Theses patients have functional limitations of activities. In order to establish an appropriate training programme, it will be important to define and consider the physical condition. The Society of Mitochondrial Medecine published recommandations for management of theses patients,However, theses recommandations do not allow them to propose a training program of what can be done. For these vulnerable patients, therapists are responsible fo advising a training programm without guidelines to establish its terms and conditions. In addition, some exercices do not appear to have been the subject of complete assessmeents.\n\nRegarding training programs (aerobic training, muscle reinforcement, miwed training), scientific literature shows a significant genetic and clinical variabilities, as well as a lack of data on clinical severity of included patients. In addition, the lack of informations regarding training effects of heteroplamy level limits our comprehension of mechanisms involved in adaptation of mitochondrial pool during training. Therefore, further reserchs on this subject are essential.\n\nIt is necessary to offer these patients a follow-up and personalized training program, which are in adequation with daily life. Some publications call on specifics concepts which are not compatible with day-to-day life. The investigators think it will be useful to investigate training effects in order to have practival conclusions, easily reproducible at home by patients with simple and inexpensive equipment. In this context, video consultation could allow the close follow-up of these patients.\n\nThe investigators hypothesize that a mixed training (endurance and muscle reinforcement), personalized, at home and followed by video consultation have positive effects on some physical criteria (such as musclar strength, tolerance to effort, functional abilities) without increasing heteroplasmy and creatine phosphokinase levels.",[39],"2026-06-23",{"date":76,"type":49},"2026-06-24",{"date":78,"type":49},"2022-12-20",{"date":80,"type":20},"2027-06",{"name":82,"class":56},"Centre Hospitalier Universitaire de Nice",1,{"id":85,"slug":86,"hasResults":11,"nctId":87,"briefTitle":88,"officialTitle":89,"acronym":4,"eligibilityCriteria":90,"healthyVolunteers":91,"sex":17,"minAge":66,"maxAge":92,"enrollmentInfo":93,"targetDuration":4,"studyType":69,"phases":95,"briefSummary":97,"conditions":98,"keywords":4,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":99,"lastUpdatePostDateStruct":100,"startDateStruct":102,"completionDateStruct":104,"leadSponsor":106,"locationsCount":83},"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)",true,"65 Years",{"count":94,"type":20},24,[96],"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":101,"type":49},"2026-02-18",{"date":103,"type":49},"2023-01-17",{"date":105,"type":20},"2027-08-01",{"name":107,"class":56},"Children's Hospital of Philadelphia",{"id":109,"slug":110,"hasResults":11,"nctId":111,"briefTitle":112,"officialTitle":113,"acronym":4,"eligibilityCriteria":114,"healthyVolunteers":91,"sex":17,"minAge":66,"maxAge":92,"enrollmentInfo":115,"targetDuration":4,"studyType":69,"phases":117,"briefSummary":118,"conditions":119,"keywords":4,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":122,"lastUpdatePostDateStruct":123,"startDateStruct":125,"completionDateStruct":127,"leadSponsor":129,"locationsCount":83},"100579083","phase-1-validation-of-nanosensor-oxygen-measurement-100579083","NCT06819683","Validation of Nanosensor Oxygen Measurement","The Validation of Minimally Invasive Oxygen Nanosensor Technology to Quantify Mitochondrial Function in Human Muscle","Inclusion Criteria:\n\n* Inclusion Criteria for Healthy Controls\n\n  1. Males and females, between the ages of 18 and 65 years, inclusive\n  2. Provide informed consent for study participation; able to understand and complete the protocol\n  3. Able to ambulate independently\n  4. Able to perform bicycle ergometry\n\nInclusion Criteria for Mitochondrial Myopathy (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:\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)\n18. Employed by the U.S. Department of Defense, including U.S. military personnel",{"count":116,"type":20},96,[96],"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. The 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.",[120,121],"MItochondrial Myopathies","Mitochondrial Disease","2026-02-13",{"date":124,"type":49},"2026-02-17",{"date":126,"type":49},"2025-01-02",{"date":128,"type":20},"2026-09",{"name":107,"class":56},{"id":131,"slug":132,"hasResults":11,"nctId":133,"briefTitle":134,"officialTitle":135,"acronym":4,"eligibilityCriteria":136,"healthyVolunteers":91,"sex":17,"minAge":137,"maxAge":138,"enrollmentInfo":139,"targetDuration":4,"studyType":69,"phases":141,"briefSummary":142,"conditions":143,"keywords":144,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":147,"lastUpdatePostDateStruct":148,"startDateStruct":150,"completionDateStruct":152,"leadSponsor":154,"locationsCount":83},"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","10 Years","60 Years",{"count":140,"type":20},90,[96],"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],[145,146],"Passive Exercise","periodic acceleration","2025-11-05",{"date":149,"type":49},"2025-11-10",{"date":151,"type":49},"2023-03-22",{"date":153,"type":20},"2028-09",{"name":107,"class":56},{"id":156,"slug":157,"hasResults":11,"nctId":158,"briefTitle":159,"officialTitle":160,"acronym":4,"eligibilityCriteria":161,"healthyVolunteers":11,"sex":17,"minAge":66,"maxAge":4,"enrollmentInfo":162,"targetDuration":4,"studyType":69,"phases":163,"briefSummary":165,"conditions":166,"keywords":168,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":174,"lastUpdatePostDateStruct":175,"startDateStruct":177,"completionDateStruct":179,"leadSponsor":181,"locationsCount":83},"100574039","phase-2-doxecitin-and-doxribthymine-in-adult-subjects-with-thymidine-kinase-2-tk2-deficiency-100574039","NCT06754098","Doxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) Deficiency","An Off-Label Single Arm Clinical Study to Evaluate the Efficacy and Safety of Doxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) Deficiency.","Inclusion Criteria:\n\n1. Signed informed consent by the subject.\n2. Subject must be greater than 18 years of age at time of consent.\n3. Genetic diagnosis of TK2 deficiency\n4. Subject should have evidence of a moderate to severe disease, with motor and or respiratory involvement, shown by one of the following:\n\n   1. North Star Ambulatory Assessment Scale (NSAA) less than 30\n   2. 6-minute walking test less than 450 meters\n   3. Force Vital Capacity in the sitting position less than 70 percent or a drop in the decubitus position greater than 10 percent or need for mechanical ventilation.\n   4. Disabling symptoms and evidence of motor and\u002For respiratory function progressive decline.\n5. Female subjects must have no intention to become pregnant during the study. Female subjects who are of childbearing potential (that is, following menarche until at least 1 year post-menopausal if not anatomically and physiologically incapable of becoming pregnant) must agree and commit to the use of highly effective methods of birth control for the duration of the study and for 30 days after the end of the study, and be willing to have additional pregnancy tests conducted during the study. Acceptable methods are defined as those that result, alone or in combination, in a low failure rate (that is, less than 1 percent per year) when used consistently and correctly, such as surgical sterilization, an intrauterine device, or hormonal contraception in combination with a barrier method.\n6. Male subjects with partners of childbearing potential must agree to use effective contraception methods during the study and for at least 90 days after the last dose of the study medication. Acceptable methods include the use of condoms combined with spermicidal foam\u002Fgel\u002Ffilm\u002Fcream\u002Fsuppository.\n7. Willingness to comply with the study protocol, including but not limited to, all study procedures, study visits, and study drug compliance.\n\nExclusion Criteria:\n\n1. History of liver disease, or liver function test results (alanine aminotransferase \\[ALT\\], aspartate transaminase \\[AST\\], or total bilirubin) greater than or equal2 times (2X) the upper limit of normal. Patients with transaminases greater than 2 times (2X) can participate with the approval and monitoring of a doctor specializing in liver toxicity.\n2. Participation in a previous trial of any investigational agent for primary mitochondrial disease within 1 year prior to informed consent, or use of any other investigational therapy within 30 days (or 3 half-lives, whichever is longer) prior to informed consent, or participation in other clinical studies, within 30 days prior to informed consent, which in the opinion of the study Sponsor, may potentially confound results from this study.\n3. Pregnant (females 10.0 years old or older will have a pregnancy test at screening), or breastfeeding",{"count":68,"type":20},[164],"PHASE2","The purpose of this clinical trial is to evaluate the efficacy and safety of Doxecitin and Doxribtimine (dC+dT) in adult participants with thymidine kinase 2 (TK2) deficiency attended in the Neuromuscular Unit of '12 de Octubre' Hospital.\n\nThe main questions it aims to answer are:\n\n* Is dT+dC effective in the treatment of the adult participants with TK2 deficiency?\n* Is dT+dC safe in the treatment of adult participants with TK2 deficiency?\n\nResearchers will evaluate the effectiveness of the treatment doxecitin and doxribthymine in adult participants with TK2 deficiency. In addition, the mitochondrial DNA levels before and after treatment (extracted from the muscle and from uroepithelial cells) of these participants will be also studied.",[167,39],"Thymidine Kinase 2 (TK2 ) Deficiency",[169,170,171,172,173],"TK2 deficiency","Primary Mitochondrial Myopathy","Deoxycytidine (dC)","Deoxythymidine (dT)","Mitochondrial DNA depletion and multiple deletions syndromes (MDDS)","2025-07-24",{"date":176,"type":49},"2025-07-28",{"date":178,"type":49},"2025-01-01",{"date":180,"type":20},"2027-12-31",{"name":182,"class":56},"Cristina Domínguez González",{"id":184,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":185,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":186,"keywords":187,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":188,"lastUpdatePostDateStruct":189,"startDateStruct":191,"completionDateStruct":192,"leadSponsor":193,"locationsCount":194},"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":190,"type":49},"2025-06-05",{"date":51,"type":49},{"date":53,"type":20},{"name":55,"class":56},18,{"id":196,"slug":197,"hasResults":11,"nctId":198,"briefTitle":199,"officialTitle":200,"acronym":201,"eligibilityCriteria":202,"healthyVolunteers":11,"sex":17,"minAge":66,"maxAge":4,"enrollmentInfo":203,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":205,"conditions":206,"keywords":4,"overallStatus":45,"whyStopped":4,"lastUpdateSubmitDate":207,"lastUpdatePostDateStruct":208,"startDateStruct":210,"completionDateStruct":211,"leadSponsor":213,"locationsCount":83},"100454607","mtdna-mutation-load-analysis-in-mesoangioblasts-100454607","NCT05199740","mtDNA Mutation Load Analysis in Mesoangioblasts","Assess the mtDNA Mutation Load in Mesoangioblasts of mtDNA Mutation Carriers","MABS05","Inclusion Criteria all participants:\n\n* Written informed consent\n* Age: 18+\n* Sex: male\u002Ffemale\n* Carriers of a heteroplasmic mtDNA mutation load \\>20% in skeletal muscle or \\>1% in blood\n\nExclusion Criteria all participants:\n\n* No informed consent\n* Use of anti-coagulants, anti-thrombotics and other medication influencing coagulation\n* Have a weekly alcohol intake of ≥ 35 units (men) or ≥ 24 units (women)\n* Current history of drug abuse\n* A history of strokes\n* Significant concurrent illness\n* Ongoing participation in other clinical trials that contain an intervention\n* Major surgery within 4 weeks of the visit\n* Pregnant or lactating women\n* Patients unable and\u002For unwilling to comply with treatment and study instructions",{"count":204,"type":20},30,"Mitochondrial diseases caused by defects in oxidative phosphorylation (OXPHOS) due to heteroplasmic mitochondrial DNA (mtDNA) mutations are rare (frequency 1\u002F5,000), but severe multi-system disorders. Clinical manifestations are highly variable, but predominantly affect energy demanding tissues, like brain and muscle. Myopathy is a common feature of mtDNA disorders, being present in more than 50% of the mtDNA mutation carriers, and seriously affects patients' general well-being and quality of life. Currently, no treatment is available for these patients, although the induction of muscle regeneration by exercise treatment has been shown to alleviate their myopathy. This implies that these patients can produce muscle fibres that perform better, most likely because the mutation load is lower. Mesoangioblasts (MABs) are myogenic precursors that have been recognized as a source for development of a systemic myogenic stem-cell therapy. Autologous MABs may be feasible for half of the mtDNA mutation carriers of 6 different mtDNA mutations, as their mtDNA mutation load in mesoangioblasts was (nearly) absent (\\\u003C10%). However, there are many more mtDNA mutations in the 16.5kb mtDNA and the aim of this study is to determine the mtDNA mutation load in mesoangioblasts of other mtDNA mutation carriers and identify the patients or mutations for which this is a feasible approach.",[39],"2024-01-22",{"date":209,"type":49},"2024-01-24",{"date":78,"type":49},{"date":212,"type":20},"2026-07-01",{"name":214,"class":56},"Maastricht University"]