primary hyperoxaluria
Information
- Disease name
- primary hyperoxaluria
- Disease ID
- DOID:2977
- Description
- "A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones." [url:https\://ghr.nlm.nih.gov/condition/primary-hyperoxaluria, url:https\://www.ncbi.nlm.nih.gov/pubmed/27815184]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04152200 | Active, not recruiting | Phase 3 | A Study to Evaluate Lumasiran in Patients With Advanced Primary Hyperoxaluria Type 1 | January 21, 2020 | July 2025 |
| NCT03905694 | Active, not recruiting | Phase 3 | A Study of Lumasiran in Infants and Young Children With Primary Hyperoxaluria Type 1 | April 22, 2019 | August 19, 2024 |
| NCT04125472 | Approved for marketing | Expanded Access Protocol to Provide Lumasiran to Patients With Primary Hyperoxaluria Type 1 | |||
| NCT02000219 | Completed | Phase 2 | Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Primary Hyperoxaluria Patients Who Are on Dialysis | May 19, 2014 | January 29, 2020 |
| NCT02012985 | Completed | Phase 1/Phase 2 | Study to Evaluate the Efficacy and Safety of Oxabact (OC5) in Patients With Primary Hyperoxaluria | December 2013 | January 2015 |
| NCT00589225 | Completed | Primary Hyperoxaluria Mutation Genotyping | December 2003 | September 2014 | |
| NCT02124395 | Completed | Health-related Quality of Life in Rare Kidney Stone | August 2013 | July 2022 | |
| NCT02340689 | Completed | Primary Hyperoxaluria Mutation Genotyping/Phenotyping | October 2013 | December 2018 | |
| NCT03116685 | Completed | Phase 3 | A Study to Evaluate the Efficacy and Safety of Oxabact in Patients With Primary Hyperoxaluria | January 9, 2018 | April 15, 2021 |
| NCT03350451 | Completed | Phase 2 | An Extension Study of an Investigational Drug, Lumasiran (ALN-GO1), in Participants With Primary Hyperoxaluria Type 1 | April 4, 2018 | February 7, 2023 |
| NCT03391804 | Completed | Phase 2 | Study of ALLN-177 in Patients Aged 12 Years or Older With Enteric or Primary Hyperoxaluria and Hyperoxalemia | July 17, 2018 | December 13, 2019 |
| NCT03392896 | Completed | Phase 1 | Study of DCR-PHXC-101 in Normal Healthy Volunteers and Patients With Primary Hyperoxaluria | December 6, 2017 | November 19, 2019 |
| NCT03819647 | Completed | Phase 2 | Evaluation of the Efficacy of Stiripentol (Diacomit) as Monotherapy for the Treatment of Primary Hyperoxaluria | May 21, 2019 | March 8, 2021 |
| NCT00638703 | Completed | Phase 2/Phase 3 | Study to Evaluate the Efficacy and Safety of OxabactTM on Reduction of Urinary Oxalate in Primary Hyperoxaluria Patients | October 2007 | October 2008 |
| NCT01037231 | Completed | Phase 2/Phase 3 | Phase 2/3 Oxabact Study | December 2009 | January 2011 |
| NCT06065852 | Recruiting | National Registry of Rare Kidney Diseases | November 6, 2009 | December 31, 2039 | |
| NCT02026388 | Recruiting | Rare Kidney Stone Consortium Biobank | May 2013 | June 2025 | |
| NCT05843851 | Recruiting | N/A | Genetic Newborn Screening for Cystinosis and Primary Hyperoxaluria | March 15, 2022 | June 30, 2026 |
| NCT00588562 | Recruiting | Rare Kidney Stone Consortium Patient Registry | July 2003 | June 2025 | |
| NCT05001269 | Recruiting | Phase 2 | Nedosiran in Pediatric Patients From Birth to 11 Years of Age With PH and Relatively Intact Renal Function | February 22, 2022 | December 2024 |
| NCT05687474 | Recruiting | Baby Detect : Genomic Newborn Screening | September 1, 2022 | August 31, 2025 | |
| NCT05107830 | Unknown status | Phenotyping of Primary Hyperoxaluria | January 22, 2021 | January 2023 | |
| NCT00875823 | Withdrawn | International Registry for Primary Hyperoxaluria | September 2003 | July 2009 |
- Disase is a (Disease Ontology)
- DOID:2978
- Cross Reference ID (Disease Ontology)
- ICD10CM:E72.53
- Cross Reference ID (Disease Ontology)
- ICD10CM:R82.992
- Cross Reference ID (Disease Ontology)
- MESH:D006959
- Cross Reference ID (Disease Ontology)
- MESH:D006960
- Cross Reference ID (Disease Ontology)
- MIM:PS259900
- Cross Reference ID (Disease Ontology)
- NCI:C123158
- Cross Reference ID (Disease Ontology)
- ORDO:416
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:190766003
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:367621000119107
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0020500
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0020501
- OrphaNumber from OrphaNet (Orphanet)
- 416