24 completed, 5 recruiting, 4 unknown, 3 withdrawn. 13 Not applicable, 7 Phase 2, 4 Phase 1, 2 Phase 3, 1 Early Phase 1.
Follow Inborn Errors of Metabolism: new trials by email Literature Review of Inborn Errors of Metabolism trials Research Report on Inborn Errors of Metabolism
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| Metabolites in Blood and Breath in Metabolic Conditions Observational Study - Inborn Errors of Metabolism, Epilepsy (Treatment Refractory) | Not yet recruiting | University Children's Hospital, Zurich | 100 | 2026-10-01 | 2026-08-12 | |
| EasiVits Acceptability & Tolerance Study UNO EasiVits, DUO EasiVits - Inborn Errors of Metabolism | Not applicable | Active not recruiting | NeoteriQ Ltd. | 30 | 2026-03-07 | 2026-06-01 |
| Growth and Development of Children With Inborn Errors of Metabolism in Assiut Governorate Inborn Errors of Metabolism | Not yet recruiting | Assiut University | 201 | 2025-08-01 | 2024-10-23 | |
| Phase 1/2: CD45RA Depleted Stem Cell Addback to Prevent Viral or Fungal Infections Post TCRab/CD19 Depleted HSCT Phase 1 Dose Level 1, Phase 1 Dose Level 2, Phase 1 Dose Level 3 - Leukemia, High Risk Acute Lymphoblastic Leukemia | Phase 1 / Phase 2 | Recruiting | Children's Hospital of Philadelphia | 100 | 2025-03-21 | 2026-04-15 |
| Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy EE-TP - Mitochondrial Diseases, Metabolic Disease | Phase 2 | Withdrawn | St George's, University of London | 2024-11-01 | 2023-10-11 | |
| Institutional Registry of Rare Diseases Rare Diseases, Amyloidosis | Recruiting | Hospital Italiano de Buenos Aires | 380 | 2024-07-01 | 2026-01-14 | |
| Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases High resolution mass spectrometry - Inborn Errors of Metabolism, Rare Diseases | Not applicable | Recruiting | Cliniques universitaires Saint-Luc- Université Catholique de Louvain | 2286 | 2024-01-03 | 2024-04-12 |
| Targeted Interventions for Successful Transition and Transfer of Adolescents With Inborn Errors of Metabolism to Adult Services Behavioral - Transition, Inborn Errors of Metabolism | Not applicable | Unknown | University Children's Hospital, Zurich | 20 | 2024-01-01 | 2024-08-06 |
| ORCHARD- Optimising Home Assessment of Rural Patients A sphygmanometer, a digital thermometer, a pulse oximeter and a peak flow meter will be given to participants to use during their telemedicine consultations with health care providers. - Organ Transplant, Cancer | Not applicable | Completed | University of Aberdeen | 12 | 2023-02-01 | 2025-03-30 |
| Orphan Drugs for Inherited Metabolic Diseases Inborn Errors of Metabolism | Completed | University of Lausanne | 39 | 2022-10-01 | 2024-12-04 | |
| Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM) Inborn Errors of Metabolism, Propionic Aciduria | Completed | Emma Marie Caroline Slack | 22 | 2021-11-30 | 2024-03-01 | |
| Protecting Brains and Saving Futures - the PBSF Protocol Brain Injuries, Congenital Heart Disease | Unknown | Protecting Brains Saving Futures | 2268 | 2021-01-01 | 2020-11-16 | |
| Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders Genetic Disease, Inborn Errors of Metabolism | Completed | Duke University | 56 | 2020-03-03 | 2026-01-15 | |
| Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism Survey - Inborn Errors of Metabolism, Urea Cycle Disorder | Completed | University Children's Hospital, Zurich | 69 | 2019-08-01 | 2020-11-04 | |
| Biomarkers for Inborn Errors of Metabolism Inborn Errors of Metabolism, Biomarker | Completed | CENTOGENE GmbH Rostock | 462 | 2019-08-01 | 2022-03-24 | |
| Utilizing Augmented Artificial Intelligence for Aminoacidopathies Plasma amino acid assay - Inborn Errors of Metabolism | Completed | Aga Khan University Hospital, Pakistan | 2081 | 2019-08-01 | 2022-07-05 | |
| Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism (iPSC-IEM) Skin biopsy, Withdraw of blood - Inborn Errors of Metabolism | Unknown | CENTOGENE GmbH Rostock | 1000 | 2019-08-01 | 2023-02-10 | |
| Market Research - Acceptability Study for a New PKU Protein Substitute GMPOWER - PKU, Phenylketonurias | Not applicable | Completed | Dr. Schär AG / SPA | 8 | 2019-02-04 | 2020-03-24 |
| North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Pre-visit prep, usual care + exome seq - Epilepsy; Seizure, Neuromuscular Diseases | Not applicable | Completed | University of North Carolina, Chapel Hill | 548 | 2018-09-28 | 2025-05-13 |
| Market Research - Acceptability Trial for a New PKU Amino Acid Based Protein Substitute Motion - PKU, Phenylketonurias | Not applicable | Completed | Dr. Schär AG / SPA | 12 | 2018-07-01 | 2020-03-16 |
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Metabolism, Inborn Errors (41) · Phenylketonurias (6) · Lysosomal Storage Diseases (5) · Bone Marrow Failure Disorders (4) · Immunologic Deficiency Syndromes (4) · Metabolic Diseases (4) · Methylmalonic acidemia (4) · Mucopolysaccharidosis I (4) · Urea Cycle Disorders, Inborn (4) · Genetic Diseases, Inborn (3) · Hemoglobinopathies (3) · Leukemia (3) · Leukodystrophy, Metachromatic (3) · Mucopolysaccharidosis II (3) · Rare Diseases (3)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (41) · Nutritional and Metabolic Diseases (41) · Genetic Diseases, Inborn (38) · Metabolic Diseases (37) · Nervous System Diseases (19) · Brain Diseases (17) · Central Nervous System Diseases (17) · Brain Diseases, Metabolic (14) · Brain Diseases, Metabolic, Inborn (14) · Amino Acid Metabolism, Inborn Errors (10) · Hemic and Lymphatic Diseases (10) · Hematologic Diseases (9) · Pathologic Processes (8) · Pathological Conditions, Signs and Symptoms (8) · Bone Marrow Diseases (7)
Alemtuzumab (2) · Busulfan (2) · Melphalan (2) · N-carbamylglutamate (2) · Thiotepa (2) · carglumic acid (2) · AP 1903 reagent (1) · Antilymphocyte Serum (1) · Clinical Trials, Phase I as Topic (1) · Cyclophosphamide (1) · Hydroxyurea (1) · Injections (1) · Motion (1) · Observation (1) · Stem Cell Transplantation (1)
Children's Hospital of Philadelphia (3) · University Children's Hospital, Zurich (3) · CENTOGENE GmbH Rostock (2) · Dr. Schär AG / SPA (2) · Duke University (2) · Joanne Kurtzberg, MD (2) · National Human Genome Research Institute (NHGRI) (2) · University of Lausanne (2) · Vitaflo International, Ltd (2) · Aga Khan University Hospital, Pakistan (1) · Aldagen (1) · Assistance Publique - Hôpitaux de Paris (1) · Assiut University (1) · Bellicum Pharmaceuticals (1) · Cliniques universitaires Saint-Luc- Université Catholique de Louvain (1)
United States (17) · United Kingdom (7) · Switzerland (5) · Pakistan (3) · Egypt (2) · Albania (1) · Argentina (1) · Austria (1) · Belgium (1) · Brazil (1) · Czechia (1) · France (1) · Georgia (1) · Germany (1) · India (1)
Joanne Kurtzberg, MD (3) · Anita MacDonald (2) · Charles P Venditti, M.D. (2) · Timothy Olson, MD, PhD (2) · Adrian Gadano, MD (1) · Anita MacDonald, PhD (1) · Christel Tran, MD (1) · Eduardo Jorge Premoli, MD (1) · Greg Crawford, PhD (1) · Guilherme M Sant'Anna, PhD (1) · Guy Touati, PU-PH (1) · Hernan Garcia Rivello, MD (1) · James Hinson, MD (1)
PMID 18414145, PMID 18725595, PMID 19660971, PMID 20338795, PMID 20566609, PMID 21048060, PMID 22614770, PMID 23898205, PMID 23966250, PMID 24296492, PMID 25190203, PMID 25567501, PMID 25985870, PMID 26672496, PMID 26790480, PMID 26929599, PMID 30627136, PMID 32811506, PMID 34127041, PMID 35020756, PMID 37243446, PMID 39315524, PMID 42152020
R01HD058567 (2), 2017 (1), 2018 (1), U01HG006487 (1)