Alport Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome.
Oates Thomas M et al. — Kidney international reports (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41853742/
- 2.
High adherence to angiotensin-converting enzyme inhibitor in children and adolescents with Alport syndrome: objective verification using liquid chromatography-mass spectrometry.
Boeckhaus Jan et al. — Pediatric nephrology (Berlin, Germany) (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41272348/
- 3.
Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.
Di Hongling et al. — Nature communications (23 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41872207/
- 4.
Extracellular vesicle miR-93-5p cargo regulates glomerular endothelial cell damage in Alport syndrome.
Dedhia Charmi et al. — JCI insight (23 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41869725/
- 5.
Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results.
Riedhammer Korbinian M et al. — European journal of human genetics : EJHG (18 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41851263/
Clinical Trials — Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
A Phase 2/3 Trial of the Efficacy and Safety of Bardoxolone Methyl in Patients With Alport Syndrome - CARDINAL
Completed — Phase 2 — Biogen
https://clinicaltrials.gov/study/NCT03019185
- 2.
PODOMOUNT-Basket, a Study to Test Whether BI 764198 Helps Adults and Adolescents With Different Types of Kidney Disease
Not yet recruiting — Phase 2 — Boehringer Ingelheim
https://clinicaltrials.gov/study/NCT07355296
- 3.
ATHENA: Natural History of Disease Study in Alport Syndrome Patients
Completed — Genzyme, a Sanofi Company
https://clinicaltrials.gov/study/NCT02136862
- 4.
Atrasentan in Patients With Proteinuric Glomerular Diseases
Active (not recruiting) — Phase 2 — Novartis Pharmaceuticals
https://clinicaltrials.gov/study/NCT04573920
- 5.
A Study of ELX-02 in Patients With Alport Syndrome
Completed — Phase 2 — Eloxx Pharmaceuticals, Inc.
https://clinicaltrials.gov/study/NCT05448755
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Alport Syndrome
Alport syndrome is a hereditary kidney disease caused by mutations in COL4A3, COL4A4, or COL4A5 genes encoding type IV collagen. It causes progressive kidney failure, sensorineural hearing loss, and eye abnormalities. Early diagnosis and treatment with ACE inhibitors can significantly delay kidney failure.
Most Recent Research
The 2024 International Workshop on Alport syndrome brought together people living with Alport Syndrome, clinicians, laboratory scientists, and representatives of pharmaceutical companies to present recent data and discuss issues to advance understanding of this inherited condition. The workshop focused on diagnosis and management of Alport syndrome, with particular attention on genetic variant curation, and treatment strategies across the diverse spectrum of Alport syndrome phenotypes, from hematuria to early kidney failure, with or without hearing loss and eye abnormalities. Advances in genetic testing, especially for non-European populations, were discussed alongside challenges in variant interpretation and misclassification. Novel treatment approaches, including gene therapy, and ongoing trials of medications such as sodium-glucose cotransporter 2 inhibitors and endothelin receptor antagonists, offer hope for prolonging kidney function. Collaboration between high- and low-to-middle-income countries was highlighted, addressing disparities in diagnostic capabilities. In addition, the role of patient advocacy and the need for education in nephrology were emphasized. With ongoing research, Alport syndrome is moving closer to being not only actionable but highly treatable through the prevention of kidney failure.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.