Alport syndrome

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Information
Disease name
Alport syndrome
Disease ID
DOID:10983
Description
"A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss." [url:http\://en.wikipedia.org/wiki/Alport_syndrome]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
COL4A5 X 108,439,838 108,697,545 128
COL4A3 2 227,164,624 227,314,792 2
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT04573920 Active, not recruiting Phase 2 Atrasentan in Patients With Proteinuric Glomerular Diseases February 1, 2021 July 28, 2026
NCT03019185 Completed Phase 2/Phase 3 A Phase 2/3 Trial of the Efficacy and Safety of Bardoxolone Methyl in Patients With Alport Syndrome - CARDINAL March 2, 2017 October 30, 2020
NCT00622544 Completed A Prospective Study of Microalbuminuria in Untreated Boys With Alport Syndrome July 2007 July 2012
NCT03373786 Completed Phase 1 A Study of RG-012 in Subjects With Alport Syndrome December 22, 2017 May 20, 2019
NCT00309257 Completed Phase 2 Effects of an Intensified Treatment With ACE-I,ATA II and Statins in Alport Syndrome January 2004 October 2009
NCT01696253 Completed Multi-center Controlled Clinical Trials in Alport Syndrome-A Feasibility Study September 2012 December 2017
NCT01705132 Completed Urinary Biomarkers of the Progression of Alport Kidney Disease June 2012 July 2013
NCT05133050 Not yet recruiting N/A Safety and Efficacy of ACEI in Alport Syndrome Patients With COL4A3/COL4A4/COL4A5 Variants January 1, 2022 December 31, 2026
NCT05655728 Not yet recruiting Phase 4 Treatment With Metformin in Chinese Children With Alport Syndrome January 3, 2023 April 20, 2025
NCT06425055 Recruiting Phase 2 Vonafexor ALPort Syndrome Efficacy & Safety TRIAl-1 (ALPESTRIA-1) June 6, 2024 October 13, 2025
NCT00481130 Recruiting Alport Syndrome Treatments and Outcomes Registry September 2007 January 2030
NCT02378805 Recruiting European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport Syndrome July 1995 January 2035
NCT04947813 Recruiting Genotype-Phenotype Correlations in Patients With Alport Syndrome January 1, 2021 December 31, 2030
NCT05003986 Recruiting Phase 2 Study of Sparsentan Treatment in Pediatrics With Proteinuric Glomerular Diseases August 12, 2021 June 1, 2025
NCT05927467 Recruiting Eurbio-Alport (RaDiCo Cohort) (RaDiCo Eurbio-Alport) May 9, 2017 June 30, 2025
NCT06065852 Recruiting National Registry of Rare Kidney Diseases November 6, 2009 December 31, 2039
NCT06226896 Recruiting Effects of Dapagliflozin on Progression of Alport Syndrome November 15, 2023 September 30, 2026
NCT06274489 Recruiting Phase 1/Phase 2 A Study to Evaluate Setanaxib in Patients With Alport Syndrome November 27, 2023 January 27, 2025
NCT05267262 Recruiting Phase 2 Study to Evaluate R3R01 in Patients With Alport Syndrome and Patients With Focal Segmental Glomerulosclerosis June 15, 2022 June 2, 2025
NCT05687474 Recruiting Baby Detect : Genomic Newborn Screening September 1, 2022 August 31, 2025
NCT03749447 Terminated Phase 3 An Extended Access Program for Bardoxolone Methyl in Patients With CKD (EAGLE) March 8, 2019 August 23, 2023
NCT01602835 Terminated Human Urine Sample Collection for Alport Nephropathy Biomarker Studies September 2012 May 2013
NCT02855268 Terminated Phase 2 Study of Lademirsen (SAR339375) in Patients With Alport Syndrome November 2, 2019 September 22, 2022
NCT05448755 Unknown status Phase 2 A Study of ELX-02 in Patients With Alport Syndrome November 28, 2022 May 30, 2023
Disase is a (Disease Ontology)
DOID:225
Cross Reference ID (Disease Ontology)
GARD:5785
Cross Reference ID (Disease Ontology)
MESH:D009394
Cross Reference ID (Disease Ontology)
ORDO:63
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:57333009
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0027706
Exact Synonym (Disease Ontology)
Hereditary Nephritis
OrphaNumber from OrphaNet (Orphanet)
63