10 completed. 10 Not applicable.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 10 | Completed 10 |
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 |
|---|---|---|---|---|---|---|
| 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 |
| 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 |
| Evaluating Face-Recognition Technology in Syndrome Diagnosis Face2Gene - Multiple Anomalies, Dysmorphic Features | Not applicable | Completed | Manchester University NHS Foundation Trust | 111 | 2018-01-30 | 2021-01-14 |
| Evaluation of PKU Explore PKU Explore - Phenylketonuria, Inborn Errors of Metabolism | Not applicable | Completed | Vitaflo International, Ltd | 22 | 2017-06-08 | 2024-02-16 |
| Evaluation of PKU Start PKU Start - Phenylketonuria, Inborn Errors of Metabolism | Not applicable | Completed | Vitaflo International, Ltd | 10 | 2017-03-06 | 2024-02-16 |
| A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD UCD Anamix Infant - Urea Cycle Disorder, Inborn Errors of Metabolism | Not applicable | Completed | Nutricia Research | 3 | 2013-05-28 | 2021-12-09 |
| Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids Oil special 107 and MYGLIOL 810 - Inborn Errors of Metabolism | Not applicable | Completed | Assistance Publique - Hôpitaux de Paris | 20 | 2006-06-01 | 2011-02-17 |
| Stem Cell Transplantation (SCT) for Genetic Diseases Stem Cell Transplantation - Thrombocytopenia, Metachromatic Leukodystrophy | Not applicable | Completed | National Center for Research Resources (NCRR) | 1995-01-01 | 2005-06-24 |
Metabolism, Inborn Errors (10) · Phenylketonurias (4) · Genetic Diseases, Inborn (2) · Metabolic Diseases (2) · Abnormalities, Multiple (1) · Anemia, Aplastic (1) · Anemia, Diamond-Blackfan (1) · Anemia, Sickle Cell (1) · Autism Spectrum Disorder (1) · Chromosome Aberrations (1) · Congenital Abnormalities (1) · Epilepsy (1) · Fanconi Anemia (1) · Hearing Loss (1) · Hematologic Diseases (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (10) · Nutritional and Metabolic Diseases (10) · Genetic Diseases, Inborn (8) · Metabolic Diseases (8) · Brain Diseases (7) · Central Nervous System Diseases (7) · Nervous System Diseases (7) · Brain Diseases, Metabolic (6) · Brain Diseases, Metabolic, Inborn (6) · Amino Acid Metabolism, Inborn Errors (5) · Anemia (2) · Anemia, Hemolytic (2) · Anemia, Hemolytic, Congenital (2) · Hemic and Lymphatic Diseases (2) · Hemoglobinopathies (2)
Motion (1) · Stem Cell Transplantation (1)
Dr. Schär AG / SPA (2) · Vitaflo International, Ltd (2) · Assistance Publique - Hôpitaux de Paris (1) · Manchester University NHS Foundation Trust (1) · National Center for Research Resources (NCRR) (1) · Nutricia Research (1) · University of Aberdeen (1) · University of North Carolina, Chapel Hill (1)
United Kingdom (6) · United States (3) · France (1)
Anita MacDonald (2) · Guy Touati, PU-PH (1) · Jeannette T Bensen, Ph.D (1) · Jonathan S Berg, MD, PhD (1) · Peter Murchie (1) · Sofia Douzgou, MD PhD FRCP (1) · Stephen A. Feig (1)
U01HG006487 (1)