cystinuria
Information
- Disease name
- cystinuria
- Disease ID
- DOID:9266
- Description
- "An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder." [url:http\://en.wikipedia.org/wiki/Cystinuria]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02910531 | Active, not recruiting | Phase 2 | Lipoic Acid Supplement for Cystine Stone | June 19, 2017 | June 2025 |
| NCT03663855 | Completed | Phase 2 | Effect of Increasing Doses of Tiopronin on Cystine Capacity in Patients With Cystinuria | November 1, 2018 | September 10, 2019 |
| NCT03836144 | Completed | Effect of Urine Alkalinazation on Urinary Inflammatory Markers in Patients With Cystinuria | April 2, 2015 | December 31, 2020 | |
| NCT02120105 | Completed | Cystine Capacity Clinical Study (CysCap) | September 2012 | February 24, 2017 | |
| NCT02124395 | Completed | Health-related Quality of Life in Rare Kidney Stone | August 2013 | July 2022 | |
| NCT02125721 | Completed | Phase 4 | Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria | June 2012 | December 2017 |
| NCT02538016 | Completed | N/A | TCUPS- Tolvaptan Use in Cystinuria and Urolithiasis: A Pilot Study | October 2016 | December 2018 |
| NCT00381849 | Completed | Phase 1/Phase 2 | Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones | April 2006 | June 2010 |
| NCT05048563 | Completed | Registry of Thiola EC Therapy | March 2, 2021 | October 31, 2023 | |
| NCT04147871 | Not yet recruiting | Phase 2/Phase 3 | Study Evaluating Patients With Cystinuria and Efficacy and Safety Exploratory Study in the Youngest Children | March 1, 2024 | June 1, 2025 |
| NCT05058859 | Not yet recruiting | Phase 2 | Long Term Clinical Efficacy of Sodium-glucose Cotransporter-2 (SGLT-2) Inhibitor in Cystinurics | August 1, 2024 | December 1, 2026 |
| NCT00169806 | Recruiting | N/A | Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis | November 1998 | December 2025 |
| NCT00588562 | Recruiting | Rare Kidney Stone Consortium Patient Registry | July 2003 | June 2025 | |
| NCT02026388 | Recruiting | Rare Kidney Stone Consortium Biobank | May 2013 | June 2025 | |
| NCT02780297 | Recruiting | Prospective Research Rare Kidney Stones (ProRKS) | May 2016 | July 2024 | |
| NCT04818034 | Recruiting | Phase 2 | The Effect of Sodium-glucose Cotransporter (SGLT) 2 Inhibitors on Cystine Stone Formation: A Preliminary Study | May 2, 2025 | June 1, 2026 |
| NCT06065852 | Recruiting | National Registry of Rare Kidney Diseases | November 6, 2009 | December 31, 2039 | |
| NCT03539926 | Unknown status | N/A | This Study Evaluates the Superiority of Daily Self-pH Monitorization of Lit-control®pH Meter Compared to the Monitorization of Reactive Strips (Standard of Care). | April 9, 2018 | February 2019 |
| NCT02942420 | Unknown status | Phase 2 | Bucillamine Phase 2 Trial in Patients With Cystinuria | May 1, 2017 | March 2018 |
| NCT04137978 | Withdrawn | Phase 2/Phase 3 | Study Evaluating Patients With Cystinuria | May 1, 2024 | August 2025 |
- Disase is a (Disease Ontology)
- DOID:9252
- Cross Reference ID (Disease Ontology)
- GARD:6237
- Cross Reference ID (Disease Ontology)
- ICD10CM:E72.01
- Cross Reference ID (Disease Ontology)
- MESH:D003555
- Cross Reference ID (Disease Ontology)
- MIM:220100
- Cross Reference ID (Disease Ontology)
- NCI:C84664
- Cross Reference ID (Disease Ontology)
- ORDO:214
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:154738008
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0010691
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0003131
- OrphaNumber from OrphaNet (Orphanet)
- 214
- MedGen concept unique identifier (MedGen Concept name)
- C0010691
- MedGen unique identifier (MedGen Concept name)
- 8226
- MeSH unique ID (MeSH (Medical Subject Headings))
- D003555