[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Cristina Domínguez González\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":78},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,47],{"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":22,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":27,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100489471","natural-history-in-primary-mitochondrial-myopathies-100489471",false,"NCT05653544","Natural History in Primary Mitochondrial Myopathies","Natural History and Longitudinal Clinical Assessments in a Spanish Cohort of Primary Mitochondrial Myopathies","NHPMM","Inclusion Criteria:\n\n* Muscle symptoms: exercise intolerance and fatigue, myalgia, recurrent rhabdomyolysis, chronic progressive external ophthalmoplegia and\u002For muscular weakness\n* Primary mtDNA mutation or pathogenic mutations in nDNA, especially in genes related to mtDNA maintenance such as TK2, POLG, TWNK and RRM2B, among others.\n\nExclusion Criteria:\n\n* None","ALL","16 Years",{"count":20,"type":21},150,"ESTIMATED","3 Years","OBSERVATIONAL","This is a longitudinal study in a cohort of patients with a genetic diagnosis of Primary Mitochondrial Myopathy to describe the natural history of the disease and identify clinical, biochemical, molecular, and radiological variables that allow evaluation of the severity and progression of the disease and may be useful in future clinical trials.",[26],"Primary Mitochondrial Myopathies",[28,29,30,31,32,33],"mtDNA","TK2","large scale single deletion","multiple deletions","POLG","TWNK","RECRUITING","2025-09-10",{"date":37,"type":38},"2025-09-16","ACTUAL",{"date":40,"type":38},"2023-01-01",{"date":42,"type":21},"2026-12-31",{"name":44,"class":45},"Cristina Domínguez González","OTHER",1,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":52,"acronym":4,"eligibilityCriteria":53,"healthyVolunteers":11,"sex":17,"minAge":54,"maxAge":4,"enrollmentInfo":55,"targetDuration":4,"studyType":57,"phases":58,"briefSummary":60,"conditions":61,"keywords":64,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":70,"lastUpdatePostDateStruct":71,"startDateStruct":73,"completionDateStruct":75,"leadSponsor":77,"locationsCount":46},"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","18 Years",{"count":56,"type":21},15,"INTERVENTIONAL",[59],"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.",[62,63],"Thymidine Kinase 2 (TK2 ) Deficiency","Mitochondrial Myopathies",[65,66,67,68,69],"TK2 deficiency","Primary Mitochondrial Myopathy","Deoxycytidine (dC)","Deoxythymidine (dT)","Mitochondrial DNA depletion and multiple deletions syndromes (MDDS)","2025-07-24",{"date":72,"type":38},"2025-07-28",{"date":74,"type":38},"2025-01-01",{"date":76,"type":21},"2027-12-31",{"name":44,"class":45},""]