Inborn errors of metabolism
Information
- Disease name
- Inborn errors of metabolism
- Disease ID
- Description
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03548779 | Active, not recruiting | N/A | North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 | September 28, 2018 | September 8, 2024 |
| NCT00004378 | Completed | N/A | Stem Cell Transplantation (SCT) for Genetic Diseases | January 1995 | |
| NCT00309400 | Completed | The Early History of Universal Screening for Metabolic Disorders | January 2006 | June 2008 | |
| NCT00328159 | Completed | N/A | Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids | June 2006 | June 2010 |
| NCT00001596 | Completed | Phase 2 | Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome | September 2005 | May 9, 2016 |
| NCT00744692 | Completed | Phase 1 | Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders | October 2008 | April 2014 |
| NCT01049854 | Completed | Phase 2 | CD34+Selection for Partially Matched Family or Matched Unrelated Adult Donor Transplant | September 2011 | August 2018 |
| NCT02322177 | Completed | Maternal Inborn Errors of Metabolism in Pregnancy: A Pregnancy Registry Protocol | December 19, 2014 | August 20, 2018 | |
| NCT02349906 | Completed | Phase 2 | Treosulfan-based Versus Busulfan-based Conditioning in Paediatric Patients With Non-malignant Diseases | April 2015 | April 2023 |
| NCT03058848 | Completed | N/A | Evaluation of PKU Start | March 6, 2017 | September 15, 2017 |
| NCT03168399 | Completed | N/A | Evaluation of PKU Explore | June 8, 2017 | March 15, 2018 |
| NCT03534752 | Completed | Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland | April 1, 2018 | April 1, 2020 | |
| NCT03911089 | Completed | N/A | A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD | May 28, 2013 | November 2019 |
| NCT04098198 | Completed | Biomarkers for Inborn Errors of Metabolism | August 1, 2019 | March 11, 2022 | |
| NCT04248062 | Completed | Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism | August 1, 2019 | October 16, 2020 | |
| NCT04309331 | Completed | N/A | Market Research - Acceptability Trial for a New PKU Amino Acid Based Protein Substitute | July 1, 2018 | September 19, 2018 |
| NCT04318509 | Completed | N/A | Market Research - Acceptability Study for a New PKU Protein Substitute | February 4, 2019 | May 19, 2019 |
| NCT04709965 | Completed | N/A | Evaluating Face-Recognition Technology in Syndrome Diagnosis | January 30, 2018 | November 25, 2020 |
| NCT05330039 | Completed | Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM) | November 30, 2021 | February 27, 2024 | |
| NCT05437445 | Completed | Utilizing Augmented Artificial Intelligence for Aminoacidopathies | August 1, 2019 | August 30, 2020 | |
| NCT00692926 | Completed | Phase 1 | Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells | October 2005 | July 2012 |
| NCT03639844 | No longer available | BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study | |||
| NCT05732922 | Not yet recruiting | N/A | ORCHARD- Optimising Home Assessment of Rural Patients | February 2023 | August 2023 |
| NCT04097275 | Recruiting | Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Inborn Errors of Metabolism (iPSC-IEM) | August 1, 2019 | August 1, 2024 | |
| NCT02356653 | Recruiting | Early Phase 1 | Expanded Access Protocol Using CD3+/CD19+ Depleted PBSC | December 2013 | January 2027 |
| NCT05818566 | Recruiting | Orphan Drugs for Inherited Metabolic Diseases | October 1, 2022 | October 1, 2024 | |
| NCT05413278 | Recruiting | N/A | Targeted Interventions for Successful Transition and Transfer of Adolescents With Inborn Errors of Metabolism to Adult Services | January 1, 2024 | December 31, 2025 |
| NCT06360913 | Recruiting | N/A | Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases | January 3, 2024 | January 2028 |
| NCT00078078 | Recruiting | Clinical and Laboratory Study of Methylmalonic Acidemia | June 7, 2004 | ||
| NCT04399694 | Suspended | Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders | March 3, 2020 | April 2026 | |
| NCT00654433 | Terminated | Phase 3 | ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases | March 2008 | November 2011 |
| NCT00843921 | Unknown status | Phase 2/Phase 3 | N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia | August 2008 | June 30, 2020 |
| NCT03786497 | Unknown status | Protecting Brains and Saving Futures - the PBSF Protocol | January 1, 2021 | December 31, 2023 | |
| NCT01003912 | Withdrawn | Phase 1 | Fetal Umbilical Cord Blood (UCB) Transplant for Lysosomal Storage Diseases | October 2009 | March 2017 |
| NCT03866954 | Withdrawn | Phase 2 | Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy | November 2024 | December 2027 |
| NCT01341379 | Withdrawn | Phase 2 | Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate | December 2010 | August 2012 |