| Not Yet Recruiting | Growth and Development of Children With Inborn Errors of Metabolism in Assiut Governorate NCT06654765 | Assiut University | — |
| Recruiting | Phase 1/2: CD45RA Depleted Stem Cell Addback to Prevent Viral or Fungal Infections Post TCRab/CD19 Depleted HS NCT06839456 | Children's Hospital of Philadelphia | Phase 1 / Phase 2 |
| Withdrawn | Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyop NCT03866954 | St George's, University of London | Phase 2 |
| Recruiting | Institutional Registry of Rare Diseases NCT06573723 | Hospital Italiano de Buenos Aires | — |
| Recruiting | Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases NCT06360913 | Cliniques universitaires Saint-Luc- Université Catholique de Louvain | N/A |
| Recruiting | Targeted Interventions for Successful Transition and Transfer of Adolescents With Inborn Errors of Metabolism NCT05413278 | University Children's Hospital, Zurich | N/A |
| Completed | ORCHARD- Optimising Home Assessment of Rural Patients NCT05732922 | University of Aberdeen | N/A |
| Completed | Orphan Drugs for Inherited Metabolic Diseases NCT05818566 | University of Lausanne | — |
| Completed | Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM) NCT05330039 | Emma Marie Caroline Slack | — |
| Unknown | Protecting Brains and Saving Futures - the PBSF Protocol NCT03786497 | Protecting Brains Saving Futures | — |
| Completed | Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders NCT04399694 | Duke University | — |
| Completed | Utilizing Augmented Artificial Intelligence for Aminoacidopathies NCT05437445 | Aga Khan University Hospital, Pakistan | — |
| Completed | Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism NCT04248062 | University Children's Hospital, Zurich | — |
| Completed | Biomarkers for Inborn Errors of Metabolism NCT04098198 | CENTOGENE GmbH Rostock | — |
| Unknown | Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism (iP NCT04097275 | CENTOGENE GmbH Rostock | — |
| Completed | Market Research - Acceptability Study for a New PKU Protein Substitute NCT04318509 | Dr. Schär AG / SPA | N/A |
| Completed | North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 NCT03548779 | University of North Carolina, Chapel Hill | N/A |
| Completed | Market Research - Acceptability Trial for a New PKU Amino Acid Based Protein Substitute NCT04309331 | Dr. Schär AG / SPA | N/A |
| Completed | Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland NCT03534752 | University of Lausanne | — |
| Completed | Evaluating Face-Recognition Technology in Syndrome Diagnosis NCT04709965 | Manchester University NHS Foundation Trust | N/A |
| Completed | Evaluation of PKU Explore NCT03168399 | Vitaflo International, Ltd | N/A |
| Completed | Evaluation of PKU Start NCT03058848 | Vitaflo International, Ltd | N/A |
| Completed | Treosulfan-based Versus Busulfan-based Conditioning in Paediatric Patients With Non-malignant Diseases NCT02349906 | medac GmbH | Phase 2 |
| Completed | Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol NCT02322177 | National Human Genome Research Institute (NHGRI) | — |
| Recruiting | Expanded Access Protocol Using CD3+/CD19+ Depleted PBSC NCT02356653 | Children's Hospital of Philadelphia | EARLY_Phase 1 |
| Completed | A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Foo NCT03911089 | Nutricia Research | N/A |
| Completed | CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant NCT01049854 | New York Medical College | Phase 2 |
| Withdrawn | Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate NCT01341379 | Children's Hospital of Philadelphia | Phase 2 |
| Withdrawn | Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases NCT01003912 | Joanne Kurtzberg, MD | Phase 1 |
| Completed | Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Di NCT00744692 | Duke University | Phase 1 |
| Unknown | N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia NCT00843921 | Mendel Tuchman | Phase 2 / Phase 3 |
| Terminated | ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metab NCT00654433 | Aldagen | Phase 3 |
| Completed | Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids NCT00328159 | Assistance Publique - Hôpitaux de Paris | N/A |
| Completed | The Early History of Universal Screening for Metabolic Disorders NCT00309400 | University of Miami | — |
| Completed | Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells NCT00692926 | Joanne Kurtzberg, MD | Phase 1 |
| Completed | Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome NCT00001596 | William Gahl, M.D. | Phase 2 |
| Recruiting | Clinical and Laboratory Study of Methylmalonic Acidemia NCT00078078 | National Human Genome Research Institute (NHGRI) | — |
| Completed | Stem Cell Transplantation (SCT) for Genetic Diseases NCT00004378 | National Center for Research Resources (NCRR) | N/A |
| No Longer Available | BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BP NCT03639844 | Bellicum Pharmaceuticals | — |