homocystinuria
Information
- Disease name
- homocystinuria
- Disease ID
- DOID:9263
- Description
- "An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine." [url:http\://en.wikipedia.org/wiki/Homocystinuria]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03406611 | Active, not recruiting | Phase 1/Phase 2 | Pegtibatinase as an Enzyme Therapy for Patients With Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (COMPOSE) | January 22, 2019 | December 2026 |
| NCT00483314 | Completed | Phase 2 | Homocystinuria: Treatment With N-Acetylcysteine | November 2007 | February 2009 |
| NCT01192828 | Completed | Phase 1/Phase 2 | Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine | January 2010 | December 2017 |
| NCT02404337 | Completed | Phase 2 | Betaine METABOLISM OF PATIENTS With Homocystinuria | July 2015 | February 2018 |
| NCT00004356 | Completed | Study of Homocysteine Metabolism in Homocystinuria | February 1995 | October 2000 | |
| NCT04021732 | Completed | Effects of Exercise on Metabolic Parameters in Classical Homocystinuria | July 1, 2019 | December 1, 2020 | |
| NCT05462132 | Completed | Phase 1 | Safety, Tolerability and Pharmacodynamics of SYNB1353 in Healthy Adult Volunteers | July 7, 2022 | November 27, 2022 |
| NCT06431893 | Enrolling by invitation | Phase 3 | A Phase 3 Long-term Extension Study to Assess the Long-term Safety and Efficacy of Pegtibatinase Treatment in Participants ≥12 to ≤65 Years of Age With Classical Homocystinuria (HCU) | April 30, 2024 | January 2027 |
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 | |
| NCT05051657 | Recruiting | N/A | Evaluation of the Express Plus Range | June 14, 2021 | April 30, 2025 |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT05910151 | Recruiting | Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan | October 3, 2022 | December 31, 2024 | |
| NCT06247085 | Recruiting | Phase 3 | A Study to Investigate Efficacy and Safety of Pegtibatinase Compared With Placebo in Participants ≥12 to ≤65 Years of Age With Classical Homocystinuria (HCU) Due to Cystathionine Beta Synthase Deficiency Receiving Standard of Care Treatment | December 28, 2023 | January 2026 |
- Disase is a (Disease Ontology)
- DOID:9252
- Cross Reference ID (Disease Ontology)
- GARD:10770
- Cross Reference ID (Disease Ontology)
- ICD10CM:E72.11
- Cross Reference ID (Disease Ontology)
- MESH:D006712
- Cross Reference ID (Disease Ontology)
- MIM:236200
- Cross Reference ID (Disease Ontology)
- MIM:236250
- Cross Reference ID (Disease Ontology)
- NCI:C84765
- Cross Reference ID (Disease Ontology)
- ORDO:394
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:190709008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0019880
- Exact Synonym (Disease Ontology)
- CBS deficiency
- Exact Synonym (Disease Ontology)
- cystathionine beta synthase deficiency
- Exact Synonym (Disease Ontology)
- cystathionine synthase deficiency
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0002156
- MeSH unique ID (MeSH (Medical Subject Headings))
- D006712