{"disease":{"id":"inborn-errors-of-metabolism","name":"inborn errors of metabolism"},"drugs":{"marketed":[],"pipeline":[],"offLabel":[],"totalMarketed":0,"totalPipeline":0},"trials":{"data":[{"nct_id":"NCT00078078","title":"Clinical and Laboratory Study of Methylmalonic Acidemia","phase":"","overall_status":"RECRUITING","enrollment_count":2275,"lead_sponsor_name":"National Human Genome Research Institute (NHGRI)","has_results":false},{"nct_id":"NCT03786497","title":"Protecting Brains and Saving Futures - the PBSF Protocol","phase":"","overall_status":"UNKNOWN","enrollment_count":2268,"lead_sponsor_name":"Protecting Brains Saving Futures","has_results":false},{"nct_id":"NCT05437445","title":"Utilizing Augmented Artificial Intelligence for Aminoacidopathies","phase":"","overall_status":"COMPLETED","enrollment_count":2081,"lead_sponsor_name":"Aga Khan University Hospital, Pakistan","has_results":false},{"nct_id":"NCT04097275","title":"Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism (iPSC-IEM)","phase":"","overall_status":"UNKNOWN","enrollment_count":1000,"lead_sponsor_name":"CENTOGENE GmbH Rostock","has_results":false},{"nct_id":"NCT01498263","title":"Inherited Diseases, Caregiving, and Social Networks","phase":"","overall_status":"COMPLETED","enrollment_count":682,"lead_sponsor_name":"National Human Genome Research Institute (NHGRI)","has_results":false},{"nct_id":"NCT03548779","title":"North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2","phase":"NA","overall_status":"COMPLETED","enrollment_count":548,"lead_sponsor_name":"University of North Carolina, Chapel Hill","has_results":true},{"nct_id":"NCT04098198","title":"Biomarkers for Inborn Errors of Metabolism","phase":"","overall_status":"COMPLETED","enrollment_count":462,"lead_sponsor_name":"CENTOGENE GmbH Rostock","has_results":false},{"nct_id":"NCT06573723","title":"Institutional Registry of Rare Diseases","phase":"","overall_status":"RECRUITING","enrollment_count":380,"lead_sponsor_name":"Hospital Italiano de Buenos Aires","has_results":false},{"nct_id":"NCT03534752","title":"Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland","phase":"","overall_status":"COMPLETED","enrollment_count":220,"lead_sponsor_name":"University of Lausanne","has_results":false},{"nct_id":"NCT04709965","title":"Evaluating Face-Recognition Technology in Syndrome Diagnosis","phase":"NA","overall_status":"COMPLETED","enrollment_count":111,"lead_sponsor_name":"Manchester University NHS Foundation Trust","has_results":false},{"nct_id":"NCT06729554","title":"Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among Pediatric Rare Disease Patients","phase":"NA","overall_status":"RECRUITING","enrollment_count":100,"lead_sponsor_name":"Medical University of Vienna","has_results":false},{"nct_id":"NCT04248062","title":"Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism","phase":"","overall_status":"COMPLETED","enrollment_count":69,"lead_sponsor_name":"University Children's Hospital, Zurich","has_results":false},{"nct_id":"NCT01316549","title":"Study of Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation","phase":"","overall_status":"COMPLETED","enrollment_count":67,"lead_sponsor_name":"University of California, San Francisco","has_results":false},{"nct_id":"NCT04399694","title":"Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders","phase":"","overall_status":"COMPLETED","enrollment_count":56,"lead_sponsor_name":"Duke University","has_results":false},{"nct_id":"NCT05818566","title":"Orphan Drugs for Inherited Metabolic Diseases","phase":"","overall_status":"COMPLETED","enrollment_count":39,"lead_sponsor_name":"University of Lausanne","has_results":false},{"nct_id":"NCT03609814","title":"Study of Clofarabine and Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation (HCT)","phase":"","overall_status":"COMPLETED","enrollment_count":30,"lead_sponsor_name":"University of California, San Francisco","has_results":false},{"nct_id":"NCT03609840","title":"Study of Thiotepa and TEPA Drug Exposure in Pediatric Hematopoietic Stem Cell Transplant Patients","phase":"","overall_status":"COMPLETED","enrollment_count":25,"lead_sponsor_name":"University of California, San Francisco","has_results":false},{"nct_id":"NCT03609827","title":"Study of Melphalan Drug Exposure in Pediatric Hematopoietic Stem Cell Transplant Patients","phase":"","overall_status":"COMPLETED","enrollment_count":25,"lead_sponsor_name":"University of California, San Francisco","has_results":false},{"nct_id":"NCT03168399","title":"Evaluation of PKU Explore","phase":"NA","overall_status":"COMPLETED","enrollment_count":22,"lead_sponsor_name":"Vitaflo International, Ltd","has_results":false},{"nct_id":"NCT05330039","title":"Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)","phase":"","overall_status":"COMPLETED","enrollment_count":22,"lead_sponsor_name":"Emma Marie Caroline Slack","has_results":false},{"nct_id":"NCT05413278","title":"Targeted Interventions for Successful Transition and Transfer of Adolescents With Inborn Errors of Metabolism to Adult Services","phase":"NA","overall_status":"RECRUITING","enrollment_count":20,"lead_sponsor_name":"University Children's Hospital, Zurich","has_results":false},{"nct_id":"NCT04309331","title":"Market Research - Acceptability Trial for a New PKU Amino Acid Based Protein Substitute","phase":"NA","overall_status":"COMPLETED","enrollment_count":12,"lead_sponsor_name":"Dr. Schär AG / SPA","has_results":false},{"nct_id":"NCT05732922","title":"ORCHARD- Optimising Home Assessment of Rural Patients","phase":"NA","overall_status":"COMPLETED","enrollment_count":12,"lead_sponsor_name":"University of Aberdeen","has_results":false},{"nct_id":"NCT03058848","title":"Evaluation of PKU Start","phase":"NA","overall_status":"COMPLETED","enrollment_count":10,"lead_sponsor_name":"Vitaflo International, Ltd","has_results":false},{"nct_id":"NCT04318509","title":"Market Research - Acceptability Study for a New PKU Protein Substitute","phase":"NA","overall_status":"COMPLETED","enrollment_count":8,"lead_sponsor_name":"Dr. Schär AG / SPA","has_results":false},{"nct_id":"NCT02322177","title":"Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol","phase":"","overall_status":"COMPLETED","enrollment_count":2,"lead_sponsor_name":"National Human Genome Research Institute (NHGRI)","has_results":false},{"nct_id":"NCT01881334","title":"Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants","phase":"","overall_status":"AVAILABLE","enrollment_count":null,"lead_sponsor_name":"Joanne Kurtzberg, MD","has_results":false},{"nct_id":"NCT03639844","title":"BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study","phase":"","overall_status":"NO_LONGER_AVAILABLE","enrollment_count":null,"lead_sponsor_name":"Bellicum Pharmaceuticals","has_results":false}],"total":28},"guidelines":[],"source":"Drug Landscape verified database"}