Metabolism, Inborn Errors: all 110 studies

Page 1 of 2. Open to participants first (23), then studies with results posted, then the rest; newest registration first within each.

• An Evaluation of Nutritional Status, Body Composition, and Dietary Intakes of Filipino Pediatric Patients With Inborn Errors of Intermediary Protein MetabolismRecruitingNCT07837336
• Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIBNot yet recruitingNCT07818759Phase 1/2
• Market Research of a Slow Release Protein Substitute for the Dietary Management of PKUNot yet recruitingNCT07802366Not applicable
• Metabolites in Blood and Breath in Metabolic ConditionsNot yet recruitingNCT07704606
• A Long-Term Observational Study of Patients With FucosidosisRecruitingNCT07615400
• Study of Zodasiran in Adolescent Participants With Homozygous Familial HypercholesterolemiaRecruitingNCT07473843Phase 3
• Phase 1/2: CD45RA Depleted Stem Cell Addback to Prevent Viral or Fungal Infections Post TCRab/CD19 Depleted HSCTRecruitingNCT06839456Phase 1/2
• Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)RecruitingNCT06805695
• A Phase 3 Study of NTLA-2001 in ATTRv-PNRecruitingNCT06672237Phase 3
• Growth and Development of Children With Inborn Errors of Metabolism in Assiut GovernorateNot yet recruitingNCT06654765
• Institutional Registry of Rare DiseasesRecruitingNCT06573723
• Blood Spot and Urine Metabolomic Screening Applied to Rare DiseasesRecruitingNCT06360913Not applicable
• Effect of Large Neutral Amino Acids in Adults With Classical PhenylketonuriaRecruitingNCT06337864Not applicable
• Registry of Patients Diagnosed With Lysosomal Storage DiseasesRecruitingNCT05619900
• An Extension Study to Evaluate the Long-Term Safety and Clinical Activity of mRNA-3705 in Participants Previously Enrolled in Other Clinical Studies of mRNA-3705RecruitingNCT05295433Phase 1/2
• A Study to Assess the Long-term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 StudyRecruitingNCT05130437Phase 1/2
• Open-Label Study of mRNA-3927 in Participants With Propionic AcidemiaRecruitingNCT04159103Phase 1/2
• Diesel Exhaust Induces Glucocorticoid ResistanceRecruitingNCT03615742Phase 4
• Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic AcidemiaRecruitingNCT02890342
• Expanded Access Protocol Using CD3+/CD19+ Depleted PBSCRecruitingNCT02356653Early Phase 1
• Longitudinal Study of Urea Cycle DisordersRecruitingNCT00237315
• Clinical and Laboratory Study of Methylmalonic AcidemiaRecruitingNCT00078078
• Study of AlkaptonuriaRecruitingNCT00005909
• Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies.CompletedNCT05425745Phase 3Results posted
• A Study to Evaluate Administration of SBT101 Gene Therapy in Adult Patients With Adrenomyeloneuropathy (AMN)TerminatedNCT05394064Phase 1/2Results posted
• North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2CompletedNCT03548779Not applicableResults posted
• An Extension Study of an Investigational Drug, Lumasiran (ALN-GO1), in Participants With Primary Hyperoxaluria Type 1CompletedNCT03350451Phase 2Results posted
• North Carolina Newborn Exome Sequencing for Universal ScreeningCompletedNCT02826694Not applicableResults posted
• Ataluren for Nonsense Mutation Methylmalonic AcidemiaTerminatedNCT01141075Phase 2Results posted
• Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant DisordersCompletedNCT00744692Phase 1Results posted
• An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-HypercholesterolemiaCompletedNCT00694109Phase 3Results posted
• Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of MetabolismTerminatedNCT00668564Phase 2Results posted
• Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial HypercholesterolemiaCompletedNCT00607373Phase 3Results posted
• Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial HypercholesterolemiaCompletedNCT00477594Phase 2Results posted
• Measure Liver Fat Content After ISIS 301012 (Mipomersen) AdministrationCompletedNCT00362180Phase 2Results posted
• Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle DisorderCompletedNCT00345605Phase 2Results posted
• Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2/3Results posted
• Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak SyndromeCompletedNCT00001596Phase 2Results posted
• EasiVits Acceptability & Tolerance StudyActive, not recruitingNCT07619170Not applicable
• Prescreening Study to Identify Potential Wilson Disease Participants for Gene-Editing Clinical TrialActive, not recruitingNCT07226622
• An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC DeficiencyActive, not recruitingNCT06255782Phase 3
• Orphan Drugs for Inherited Metabolic DiseasesCompletedNCT05818566
• Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCTActive, not recruitingNCT05739643Phase 1/2
• ORCHARD- Optimising Home Assessment of Rural PatientsCompletedNCT05732922Not applicable
• Utilizing Augmented Artificial Intelligence for AminoacidopathiesCompletedNCT05437445
• Targeted Interventions for Successful Transition and Transfer of Adolescents With Inborn Errors of Metabolism to Adult ServicesStatus unknownNCT05413278Not applicable
• Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)CompletedNCT05330039
• Genetic Etiology in Patients With Cerebral PalsyCompletedNCT05123768
• Study of Disease Progression in Adults With Inherited Forms of Spastic ParaplegiaTerminatedNCT05008874
• Cardiac Manifestation and Inherited Metabolic DiseasesCompletedNCT04999566
• A Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic AcidemiaTerminatedNCT04899310Phase 1/2
• Evaluating Face-Recognition Technology in Syndrome DiagnosisCompletedNCT04709965Not applicable
• COVID-19 and Hereditary Metabolic DiseasesWithdrawnNCT04645498
• Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic DisordersCompletedNCT04399694
• Market Research - Acceptability Study for a New PKU Protein SubstituteCompletedNCT04318509Not applicable
• Market Research - Acceptability Trial for a New PKU Amino Acid Based Protein SubstituteCompletedNCT04309331Not applicable
• Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops (NIH) Fetalis by Massively Parallel SequencingCompletedNCT04308603Not applicable
• Patient and Observer Reported Outcome Measurements in Inborn Errors of MetabolismCompletedNCT04248062
• Biomarkers for Inborn Errors of MetabolismCompletedNCT04098198
• Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism (iPSC-IEM)Status unknownNCT04097275
• A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCDCompletedNCT03911089Not applicable
• Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal EncephalomyopathyWithdrawnNCT03866954Phase 2
• Open Label Study of mRNA-3704 in Patients With Isolated Methylmalonic AcidemiaWithdrawnNCT03810690Phase 1/2
• Protecting Brains and Saving Futures - the PBSF ProtocolStatus unknownNCT03786497
• BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 StudyNo longer availableNCT03639844
• GoalKeeper: Intelligent Information Sharing for Children With Medical ComplexityCompletedNCT03620071Not applicable
• Study of Thiotepa and TEPA Drug Exposure in Pediatric Hematopoietic Stem Cell Transplant PatientsCompletedNCT03609840
• Study of Melphalan Drug Exposure in Pediatric Hematopoietic Stem Cell Transplant PatientsCompletedNCT03609827
• Study of Clofarabine and Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation (HCT)CompletedNCT03609814
• Retrospective Study of Adult Patients With Inborn Errors of Metabolism in SwitzerlandCompletedNCT03534752
• The Antibiotic Rifampin to Reduce High Levels of Blood and Urine Calcium in IIHStatus unknownNCT03384121Phase 1
• Rapid Genetic Diagnosis Employing Next Generation Sequencing for Critical Illness in Infants and ChildrenStatus unknownNCT03175692
• Evaluation of PKU ExploreCompletedNCT03168399Not applicable
• Evaluation of PKU StartCompletedNCT03058848Not applicable
• Metabolic Consequences of Heterozygous Hereditary Fructose IntoleranceCompletedNCT02979106Not applicable
• Anti-oxLDL IgM Antibodies as a Novel Therapy for Metabolic Lipid DiseasesStatus unknownNCT02707211Early Phase 1
• Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyStatus unknownNCT02635269Not applicable
• Drug & Gene Interaction Risk Analysis With & Without Genetic Testing Among Patients Undergoing MTMCompletedNCT02428660Not applicable
• Biomarker for Glycogen Storage Diseases (BioGlycogen)WithdrawnNCT02385162
• Treosulfan-based Versus Busulfan-based Conditioning in Paediatric Patients With Non-malignant DiseasesCompletedNCT02349906Phase 2
• Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry ProtocolCompletedNCT02322177
• Biomarker for Hurler Disease (BioHurler)WithdrawnNCT02298712
• Identification of a New Gene Involved in Hereditary LipodystrophyCompletedNCT02056912Not applicable
• Natural History Study of Children With Metachromatic LeukodystrophyTerminatedNCT01963650
• Mendelian Reverse Cholesterol Transport StudyTerminatedNCT01782027Not applicable
• Inherited Diseases, Caregiving, and Social NetworksCompletedNCT01498263
• Increasing Ureagenesis in Inborn Errors of Metabolism With N-CarbamylglutamateWithdrawnNCT01341379Phase 2
• Study of Fludarabine Drug Exposure in Pediatric Bone Marrow TransplantationCompletedNCT01316549
• Pharmacogenetic Factors and Side Effects of Metoclopramide and DiphenhydramineTerminatedNCT01289938Phase 1
• CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor TransplantCompletedNCT01049854Phase 2
• Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage DiseasesWithdrawnNCT01003912Phase 1
• N-Carbamylglutamate (Carbaglu) In The Treatment Of HyperammonemiaStatus unknownNCT00843921Phase 2/3
• Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood CellsCompletedNCT00692926Phase 1
• ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic DiseasesTerminatedNCT00654433Phase 3
• Bezafibrate Trial in CPT2 DeficiencyStatus unknownNCT00336167Phase 3
• Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty AcidsCompletedNCT00328159Not applicable
• The Early History of Universal Screening for Metabolic DisordersCompletedNCT00309400
• Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase DeficiencyTerminatedNCT00260299
• Higher-Dose Ezetimibe to Treat Homozygous SitosterolemiaCompletedNCT00099996Phase 3
• An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated With Sitosterolemia (0653-062)(COMPLETED)CompletedNCT00092898Phase 3

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