Not applicableLooking for participantsNCT05653544What this trial is testingNatural History in Primary Mitochondrial MyopathiesWho this might be right forPrimary Mitochondrial Myopathies Cristina Domínguez González 150
Testing effectiveness (Phase 2)Study completedNCT02805790What this trial is testingSafety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER StudyWho this might be right forPrimary Mitochondrial Disease Stealth BioTherapeutics Inc. 30
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
Testing effectiveness (Phase 2)Study completedNCT02367014What this trial is testingSafety, Tolerability, and Efficacy of MTP-131 for the Treatment of Mitochondrial MyopathyWho this might be right forMitochondrial Myopathy Stealth BioTherapeutics Inc. 36
Early research (Phase 1)Study completedNCT03888716What this trial is testingA Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial DiseaseWho this might be right forMitochondrial DiseasesMitochondrial Respiratory Chain DeficienciesMELAS Syndrome+1 more Abliva AB 72
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 applicableStudy completedNCT03048617What this trial is testingAn Observational Study of Patients With Primary Mitochondrial Disease (SPIMM-300)Who this might be right forPrimary Mitochondrial Disease Stealth BioTherapeutics Inc. 215
Early research (Phase 1)Looking for participantsNCT05569122What this trial is testingApplying pGz in Mitochondrial DiseaseWho this might be right forMitochondrial MyopathiesMitochondrial Diseases Children's Hospital of Philadelphia 90
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 applicableStudy completedNCT05687474What this trial is testingBaby Detect : Genomic Newborn ScreeningWho this might be right forCongenital Adrenal HyperplasiaFamilial Hyperinsulinemic Hypoglycemia 1Phosphoglucomutase 1 Deficiency+121 more Centre Hospitalier Universitaire de Liege 6,824
Not applicableActive Not RecruitingNCT03655223What this trial is testingEarly Check: Expanded Screening in NewbornsWho this might be right forSpinal Muscular AtrophyFragile X SyndromeFragile X - Premutation+182 more RTI International 30,000
Not applicableLooking for participantsNCT01793168What this trial is testingRare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordWho this might be right forRare DisordersUndiagnosed DisordersDisorders of Unknown Prevalence+340 more Sanford Health 20,000
Large-scale testing (Phase 3)Ended earlyNCT05267574What this trial is testingAn Open Label, Long Term Safety Study of REN001 in Primary Mitochondrial Myopathy Patients (Stride Ahead)Who this might be right forPrimary Mitochondrial Myopathy Reneo Pharma Ltd 155
Large-scale testing (Phase 3)Study completedNCT05162768What this trial is testingStudy to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)Who this might be right forMitochondrial MyopathiesMitochondrial PathologyMitochondrial DNA Mutation+5 more Stealth BioTherapeutics Inc. 102
Not applicableStudy completedNCT06180421What this trial is testingMitochondrial Video Assessment Source Material StudyWho this might be right forPolG, Primary Mitochondrial Myopathy The Emmes Company, LLC 28
Testing effectiveness (Phase 2)Ended earlyNCT04641962What this trial is testingEvaluate ASP0367 in Participants With Primary Mitochondrial MyopathyWho this might be right forPrimary Mitochondrial Myopathy Astellas Pharma Inc 34
Not applicableLooking for participantsNCT07478172What this trial is testingEffects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular DiseaseWho this might be right forNeuromuscular Diseases (NMD)Amyotrophic Lateral SclerosisMyasthenia Gravis+15 more University of Missouri-Columbia 50
Testing effectiveness (Phase 2)Study completedNCT04535609What this trial is testingAn Efficacy and Safety Study of 24 Week Treatment With Mavodelpar (REN001) in Primary Mitochondrial Myopathy PatientsWho this might be right forPrimary Mitochondrial Myopathy Reneo Pharma Ltd 213
Testing effectiveness (Phase 2)Study completedNCT05972954What this trial is testingOMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION)Who this might be right forPrimary Mitochondrial Disease Omeicos Therapeutics GmbH 28
Testing effectiveness (Phase 2)Ended earlyNCT02976038What this trial is testingOpen-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM)Who this might be right forPrimary Mitochondrial Disease Stealth BioTherapeutics Inc. 28