Not applicableStudy completedNCT05017818What this trial is testingA Retrospective Study of Subjects With Thymidine Kinase 2 DeficiencyWho this might be right forThymidine Kinase 2 Deficiency Zogenix MDS, Inc. 61
Not applicableLooking for participantsNCT01694940What this trial is testingNorth American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)Who this might be right forMitochondrial DisordersMitochondrial Genetic DisordersMitochondrial Diseases+2 more Columbia University 1,000
Testing effectiveness (Phase 2)Study completedNCT03845712What this trial is testingAn Open-Label Study of Continuation Treatment With Combination Pyrimidine Nucleosides in Patients With TK2 DeficiencyWho this might be right forThymidine Kinase 2 Deficiency UCB BIOSCIENCES, Inc. 47
Not applicableEnrolling By InvitationNCT06938542What this trial is testingPalliative Care Needs of Children With Rare Diseases and Their FamiliesWho this might be right forTrisomy 13 SyndromeArthrogryposis Congenita Multiplex With Intestinal AtresiaAsparagine Synthetase Deficiency+16 more Children's National Research Institute 480
Testing effectiveness (Phase 2)Looking for participantsNCT06754098What this trial is testingDoxecitin and Doxribthymine in Adult Subjects With Thymidine Kinase 2 (TK2) DeficiencyWho this might be right forThymidine Kinase 2 (TK2 ) DeficiencyMitochondrial Myopathies Cristina Domínguez González 15
Not applicableEnrolling By InvitationNCT01803906What this trial is testingTissue Sample Study for Mitochondrial DisordersWho this might be right forMitochondrial DisordersMitochondrial DiseaseMelas+6 more Columbia University 6,900
Testing effectiveness (Phase 2)Active Not RecruitingNCT03639701What this trial is testingTreatment of TK2 Deficiency With Thymidine and DeoxycytidineWho this might be right forMitochondrial DNA Depletion Syndrome 2 Myopathic TypeThymidine Kinase 2 Deficiency Columbia University 23
Not applicableLooking for participantsNCT07775872What this trial is testingProspective Natural History Study of POLG DiseaseWho this might be right forPolG, Primary Mitochondrial Myopathy The POLG Foundation 300
Testing effectiveness (Phase 2)Looking for participantsNCT04802707What this trial is testingDeoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion SyndromeWho this might be right forMitochondrial DiseasesMitochondrial EncephalomyopathyMitochondrial Encephalopathy+2 more Kenneth Myers, MD 200
Large-scale testing (Phase 3)WithdrawnNCT04581733What this trial is testingThe Efficacy and Safety of MT1621 in Thymidine Kinase 2 (TK2) Deficiency (Treatment naïve)Who this might be right forThymidine Kinase 2 Deficiency Zogenix MDS, Inc.