Metabolism, Inborn Errors clinical trials
The registry lists 107 studies for Metabolism, Inborn Errors across more than 10 countries. 24 are recruiting or about to start. Per ClinicalTrials.gov, last updated 2026-09-23.
Status
- Completed
- 52
- Recruiting
- 19
- Terminated
- 11
- Status unknown
- 9
- Withdrawn
- 7
- Not yet recruiting
- 5
Phase
- Phase 2
- 22
- Phase 1
- 15
- Phase 3
- 14
- Early Phase 1
- 2
- Phase 4
- 1
Where
- United States
- 55
- United Kingdom
- 18
- France
- 11
- Canada
- 10
- Netherlands
- 9
- Germany
- 8
Who runs them
National Center for Research Resources (NCRR) (6) · University of California, San Francisco (5) · National Human Genome Research Institute (NHGRI) (5) · ModernaTX, Inc. (5) · University of Lausanne (4) · Organon and Co (4) · CENTOGENE GmbH Rostock (4) · Children's Hospital of Philadelphia (3)
Studies
Recruiting first, then most recently updated. Showing 50 of 107 — search for more.
- An Evaluation of Nutritional Status, Body Composition, and Dietary Intakes of Filipino Pediatric Patients With Inborn Errors of Intermediary Protein MetabolismRecruitingNCT078373361 country
- Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic AcidemiaRecruitingNCT028903421 country
- A Long-Term Observational Study of Patients With FucosidosisRecruitingNCT076154006 countries
- Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIBNot yet recruitingNCT07818759Phase 1/21 country
- Clinical and Laboratory Study of Methylmalonic AcidemiaRecruitingNCT000780781 country
- Acceptability and Tolerance Market Research of a Slow Release, Phenylalanine-free Protein Substitute for the Dietary Management of PhenylketonuriaNot yet recruitingNCT07802366Not applicable1 country
- Study of AlkaptonuriaRecruitingNCT000059091 country
- Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)RecruitingNCT068056952 countries
- Metabolites in Blood and Breath in Metabolic ConditionsNot yet recruitingNCT07704606
- An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC DeficiencyRecruitingNCT06255782Phase 34 countries
- Study of Zodasiran in Adolescent Participants With Homozygous Familial HypercholesterolemiaNot yet recruitingNCT07473843Phase 3
- A Phase 3 Study of NTLA-2001 in ATTRv-PNRecruitingNCT06672237Phase 36 countries
- Phase 1/2: CD45RA Depleted Stem Cell Addback to Prevent Viral or Fungal Infections Post TCRab/CD19 Depleted HSCTRecruitingNCT06839456Phase 1/21 country
- Registry of Patients Diagnosed With Lysosomal Storage DiseasesRecruitingNCT056199001 country
- A Study to Assess the Long-term Safety and Clinical Activity of mRNA-3927 in Participants Previously Enrolled in the mRNA-3927-P101 StudyRecruitingNCT05130437Phase 1/28 countries
- Expanded Access Protocol Using CD3+/CD19+ Depleted PBSCRecruitingNCT02356653Early Phase 11 country
- Open-Label Study of mRNA-3927 in Participants With Propionic AcidemiaRecruitingNCT04159103Phase 1/28 countries
- Institutional Registry of Rare DiseasesRecruitingNCT065737231 country
- 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 1/26 countries
- Effect of Large Neutral Amino Acids in Adults With Classical PhenylketonuriaRecruitingNCT06337864Not applicable1 country
- Growth and Development of Children With Inborn Errors of Metabolism in Assiut GovernorateNot yet recruitingNCT066547651 country
- Diesel Exhaust Induces Glucocorticoid ResistanceRecruitingNCT03615742Phase 41 country
- Blood Spot and Urine Metabolomic Screening Applied to Rare DiseasesRecruitingNCT06360913Not applicable1 country
- Longitudinal Study of Urea Cycle DisordersRecruitingNCT002373154 countries
- Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry ProtocolCompletedNCT023221771 country
- Inherited Diseases, Caregiving, and Social NetworksCompletedNCT014982631 country
- A Study to Evaluate Administration of SBT101 Gene Therapy in Adult Patients With Adrenomyeloneuropathy (AMN)TerminatedNCT05394064Phase 1/22 countries
- EasiVits Acceptability & Tolerance StudyActive, not recruitingNCT07619170Not applicable1 country
- Identification of a New Gene Involved in Hereditary LipodystrophyCompletedNCT02056912Not applicable1 country
- COVID-19 and Hereditary Metabolic DiseasesWithdrawnNCT046454981 country
- Prescreening Study to Identify Potential Wilson Disease Participants for Gene-Editing Clinical TrialActive, not recruitingNCT072266221 country
- A Study to Assess the Safety, Pharmacokinetics, and Pharmacodynamics of mRNA-3705 in Participants With Isolated Methylmalonic AcidemiaTerminatedNCT04899310Phase 1/26 countries
- Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic DisordersCompletedNCT043996941 country
- Treosulfan-based Versus Busulfan-based Conditioning in Paediatric Patients With Non-malignant DiseasesCompletedNCT02349906Phase 24 countries
- Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCTActive, not recruitingNCT05739643Phase 1/21 country
- Study of Disease Progression in Adults With Inherited Forms of Spastic ParaplegiaTerminatedNCT050088743 countries
- Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies.CompletedNCT05425745Phase 310 countries
- North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2CompletedNCT03548779Not applicable1 country
- ORCHARD- Optimising Home Assessment of Rural PatientsCompletedNCT05732922Not applicable1 country
- Cardiac Manifestation and Inherited Metabolic DiseasesCompletedNCT049995661 country
- Orphan Drugs for Inherited Metabolic DiseasesCompletedNCT058185661 country
- Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops (NIH) Fetalis by Massively Parallel SequencingCompletedNCT04308603Not applicable1 country
- Mendelian Reverse Cholesterol Transport StudyTerminatedNCT01782027Not applicable1 country
- Investigational Drug in Patients With Hypercholesterolemia or in Patients With Sitosterolemia (0653-026)(COMPLETED)TerminatedNCT00092833Phase 3
- Sitosterolemia Extension Study (0653-004)(COMPLETED)CompletedNCT00092820Phase 3
- An Investigational Drug Study to Lower Non-Cholesterol Sterol Levels Associated With Sitosterolemia (0653-062)(COMPLETED)CompletedNCT00092898Phase 3
- Sitosterolemia Extension Study (0653-003)(COMPLETED)CompletedNCT00092807Phase 3
- Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)CompletedNCT053300391 country
- Evaluation of PKU ExploreCompletedNCT03168399Not applicable1 country
- Evaluation of PKU StartCompletedNCT03058848Not applicable1 country