[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100424116":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":21,"centralContacts":26,"locations":36,"responsibleParty":61,"collaborators":20,"id":64,"slug":65,"hasResults":66,"nctId":67,"briefTitle":68,"officialTitle":69,"acronym":70,"eligibilityCriteria":71,"healthyVolunteers":66,"sex":72,"minAge":73,"maxAge":74,"enrollmentInfo":75,"targetDuration":20,"studyType":78,"phases":79,"briefSummary":81,"conditions":82,"keywords":88,"overallStatus":39,"whyStopped":20,"lastUpdateSubmitDate":96,"lastUpdatePostDateStruct":97,"startDateStruct":100,"completionDateStruct":102,"leadSponsor":104,"locationsCount":105},{"fullName":5,"class":6},"McGill University Health Centre\u002FResearch Institute of the McGill University Health Centre","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"dC\u002FdT100-400 Arm","EXPERIMENTAL","Children \\& Adult (0-60 Y), who takes the investigational product deoxynucleosides pyrimidine (mix of deoxycytidine and deoxythymidine), following the protocol.",[13],"Combination Product: deoxycytidine and deoxythymidine",[15],{"type":16,"name":17,"description":18,"armGroupLabels":19,"otherNames":20},"COMBINATION_PRODUCT","deoxycytidine and deoxythymidine","The Investigational Product (IP) dC\u002FdT100-400 will be administered orally every day (QD) and the dose is divided over trid or bid for the daily dose of 100 mg\u002Fkg from Day 1-7, 200 mg\u002Fkg from Day 8-14, 300 mg\u002Fkg from Day 15- 21 and 400 mg\u002Fkg from Day 22 to 1825. Doses was chosen according to the safety and efficacy doses used in the literature.",[9],null,[22],{"name":23,"affiliation":24,"role":25},"Kenneth Alexis MD Myers, MD PhD FRCPC","RI-MUHC, Children Hospital of Montreal (MUHC), McGill University","PRINCIPAL_INVESTIGATOR",[27,32],{"name":23,"role":28,"phone":29,"phoneExt":30,"email":31},"CONTACT","514-934-1934","23316","kenneth.myers@mcgill.ca",{"name":33,"role":28,"phone":29,"phoneExt":34,"email":35},"Saoussen Dr Berrahmoune, PhD","76204","saoussen.berrahmoune@rimuhc.ca",[37],{"facility":38,"status":39,"city":40,"state":41,"zip":42,"country":43,"countryCode":44,"cosmosGeoPoint":45,"geoPoint":50,"contacts":51},"Research InstituMcGill University Health Centre - Children Hospital of Montreal","RECRUITING","Montreal","Quebec","H4A 3J1","Canada","CA",{"type":46,"coordinates":47},"Point",[48,49],-73.58781,45.50884,{"lat":49,"lon":48},[52,54,56,59],{"name":53,"role":28,"phone":29,"phoneExt":34,"email":31},"Dr. Kenneth Myers, MD",{"name":55,"role":28,"phone":20,"phoneExt":20,"email":35},"Saoussen Berrahmoune, PhD",{"name":57,"role":58,"phone":20,"phoneExt":20,"email":20},"Daniela Buhas, MD","SUB_INVESTIGATOR",{"name":60,"role":25,"phone":20,"phoneExt":20,"email":20},"Kenneth Myers, MD",{"type":62,"investigatorFullName":60,"investigatorTitle":63,"investigatorAffiliation":5,"oldNameTitle":20,"oldOrganization":20},"SPONSOR_INVESTIGATOR","Principal Investigator","100424116","phase-2-deoxynucleosides-pyrimidines-as-treatment-for-mitochondrial-depletion-syndrome-100424116",false,"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","ALL","1 Month","60 Years",{"count":76,"type":77},200,"ESTIMATED","INTERVENTIONAL",[80],"PHASE2","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.",[83,84,85,86,87],"Mitochondrial Diseases","Mitochondrial Encephalomyopathy","Mitochondrial Encephalopathy","Mitochondrial DNA Depletion","Mitochondrial Metabolism Disorders",[89,90,91,92,93,94,95],"Deoxycytidine","Deoxythymidine","Deoxynucleoside","Pyrimidine","Mitochondria","mtDNA","Depletion","2025-05-27",{"date":98,"type":99},"2025-05-31","ACTUAL",{"date":101,"type":99},"2021-10-18",{"date":103,"type":77},"2029-12-30",{"name":60,"class":6},1]