Not applicableLooking for participantsNCT05769621What this trial is testingA Retrospective Study to Characterize Participants With Propionic AcidemiaWho this might be right forPropionic Acidemia ModernaTX, Inc. 60
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
Testing effectiveness (Phase 2)Ended earlyNCT01141075What this trial is testingAtaluren for Nonsense Mutation Methylmalonic AcidemiaWho this might be right forAmino Acid Metabolism, Inborn Errors PTC Therapeutics 11
Not applicableStudy completedNCT03484767What this trial is testing"The MaP Study": Mapping the Patient Journey in MMA and PAWho this might be right forMethylmalonic AcidemiaPropionic Acidemia ModernaTX, Inc. 97
Not applicableLooking for participantsNCT02890342What this trial is testingNatural History, Physiology, Microbiome and Biochemistry Studies of Propionic AcidemiaWho this might be right forMetabolic DiseasePropionic AcidemiaOrganic Acidemia National Human Genome Research Institute (NHGRI) 1,045
Not applicableStudy completedNCT03159026What this trial is testingReview of Charts From Amish/Mennonite Variant PA PatientsWho this might be right forPropionic Acidemia University of Pittsburgh 38
Not applicableStudy completedNCT02322177What this trial is testingMaternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry ProtocolWho this might be right forInborn Errors of MetabolismPregnancyAcidemias National Human Genome Research Institute (NHGRI) 2
Early research (Phase 1)Ended earlyNCT04836494What this trial is testingA First in Human, Dose Escalation Study to Evaluate the Safety and Tolerability of BBP-671 in Healthy Volunteers and Patients With Propionic Acidemia or Methylmalonic AcidemiaWho this might be right forHealthy VolunteersPropionic AcidemiaMethylmalonic Acidemia+1 more CoA Therapeutics, Inc., a BridgeBio company 79
Testing effectiveness (Phase 2)Study completedNCT01624311What this trial is testingPilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young InfantsWho this might be right forUrea Cycle DisordersOrganic Acidemias Uta Lichter-Konecki 5
Not applicableStudy completedNCT05051657What this trial is testingEvaluation of the Express Plus RangeWho this might be right forPhenylketonuriasPKUHomocystinuria+3 more Vitaflo International, Ltd 28
Testing effectiveness (Phase 2)WithdrawnNCT01341379What this trial is testingIncreasing Ureagenesis in Inborn Errors of Metabolism With N-CarbamylglutamateWho this might be right forUrea Cycle Disorders, InbornInborn Errors of MetabolismPropionic Acidemia+2 more Children's Hospital of Philadelphia
Not applicableNot Yet RecruitingNCT07827222What this trial is testingGemini Flash 3.6 Versus Human Observers for FIGO-Based Interpretation of Intrapartum CardiotocographyWho this might be right forFetal HypoxiaFetal DistressLow Apgar Score+1 more Assiut University 415
Not applicableStudy completedNCT00004353What this trial is testingStudy of the Metabolism of Pyruvate and Related Problems in Patients With Lactic AcidemiaWho this might be right forMitochondrial MyopathyMELAS SyndromeLactic Acidosis National Center for Research Resources (NCRR) 35
Not applicableNot Yet RecruitingNCT06664840What this trial is testingMyRareDiet A Novel Diet Tracking ToolWho this might be right forUrea Cycle DisorderPropionic AciduriaMaple Syrup Urine Disease+1 more Oregon Health and Science University 60
Not applicableUnknownNCT05910151What this trial is testingSelective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in KazakhstanWho this might be right forPropionic/Methylmalonic AcidemiasMaple Syrup Urine DiseaseCitrullinemia+26 more West Kazakhstan Medical University 2,250
Testing effectiveness (Phase 2)Looking for participantsNCT05295433What this trial is testingAn Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705Who this might be right forMethylmalonic Acidemia ModernaTX, Inc. 56
Testing effectiveness (Phase 2)Ended earlyNCT04581785What this trial is testingGene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic AcidemiaWho this might be right forMethylmalonic Acidemia LogicBio Therapeutics, Inc 4
Not applicableLooking for participantsNCT07296419What this trial is testingDual System Study: Transvaginal Fetal Pulse Oximetry Measurement SystemsWho this might be right forFetal HypoxiaFetal Acidemia Raydiant Oximetry, Inc. 15
Not applicableLooking for participantsNCT07333599What this trial is testingHypoxia Profiles Identified in Term Newborns With Cord pH <7.00Who this might be right forNeonatal Acidemia and Hypoxia University Hospital, Strasbourg, France 400
Testing effectiveness (Phase 2)Study completedNCT01793090What this trial is testingEPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentWho this might be right forMethylmalonic Aciduria and Homocystinuria,Cblc TypeGenetic DiseaseRetinopathy Bambino Gesù Hospital and Research Institute 30