urea cycle disorder

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Information
Disease name
urea cycle disorder
Disease ID
DOID:9267
Description
"An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream." [url:http\://en.wikipedia.org/wiki/Urea_cycle_disorder]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
NCT ID Status Phase Summary Start date Completion date
NCT00472732 Completed Neurologic Injuries in Adults With Urea Cycle Disorders March 2007 July 2010
NCT02246218 Completed Phase 4 A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders December 31, 2014 July 17, 2017
NCT03064048 Completed N/A Nitric Oxide Supplementation on Neurocognitive Functions in Patients With ASLD September 15, 2017 January 31, 2023
NCT03179878 Completed Phase 1 Safety and Tolerability of SYNB1020-CP-001 June 16, 2017 April 11, 2018
NCT03335488 Completed Phase 4 Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders (UCDs) February 20, 2018 December 20, 2022
NCT03721367 Completed Chronic Liver Disease in Urea Cycle Disorders November 29, 2017 June 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
NCT04248062 Completed Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism August 1, 2019 October 16, 2020
NCT05330039 Completed Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM) November 30, 2021 February 27, 2024
NCT05706714 Completed Th1, Th2, Th17 Phenotype in Urea Cycle Disorders April 6, 2021 September 1, 2023
NCT04908319 Recruiting Hepatic Histopathology in Urea Cycle Disorders February 24, 2022 June 30, 2025
NCT04602325 Recruiting Systemic Biomarkers of Brain Injury From Hyperammonemia July 9, 2020 May 2027
NCT05076318 Recruiting N/A Dysregulated Urea-synthesis at Terminal Uremia March 1, 2021 December 1, 2024
NCT04612764 Recruiting Liver Disease in Urea Cycle Disorders November 4, 2021 December 31, 2024
NCT01948427 Terminated Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs) September 25, 2013 February 24, 2020
NCT03933410 Terminated Phase 2 UNLOCKED: A Phase 2, Open-label Trial With KB195 in Subjects With a Urea Cycle Disorder September 17, 2019 March 2, 2021
NCT03181828 Terminated Phase 1/Phase 2 Manipulating the Gut Microbiome Study March 24, 2017 June 5, 2018
NCT03343756 Terminated HepaStem Long-Term Safety Registry April 4, 2018 May 23, 2024
NCT03884959 Withdrawn Phase 2 A Safety and Efficacy Study of Infusions of HepaStem in Urea Cycle Disorders Pediatric Patients July 12, 2018 November 4, 2020
Disase is a (Disease Ontology)
DOID:9252
Cross Reference ID (Disease Ontology)
GARD:7837
Cross Reference ID (Disease Ontology)
ICD10CM:E72.2
Cross Reference ID (Disease Ontology)
ICD9CM:270.6
Cross Reference ID (Disease Ontology)
MESH:D056806
Cross Reference ID (Disease Ontology)
NCI:C84785
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:36444000
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0154246
Exact Synonym (Disease Ontology)
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
Exact Synonym (Disease Ontology)
disorder of urea cycle metabolism
Exact Synonym (Disease Ontology)
urea cycle defect