Prospective Cohort Study in Alport Syndrome Patients Under Standard Therapy

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Introduction: Patients with Alport syndrome (AS), a common genetic kidney disease, exhibit variable rates of decline in kidney function. Consequently, this global, multicenter, prospective observational study aimed to generate data useful for designing future interventional trials. Methods: The study included patients aged 12 to 65 years with a confirmed diagnosis of AS and estimated glomerular filtration rate (eGFR) of 45 to 90 ml/min. For up to 120 weeks in 12-weekly intervals, blood and urine samples, patient and family history, genotype, adverse events (AEs), medications, and patient-related outcome data were collected under International Conference on Harmonization-Good Clinical Practice (ICH-GCP) standards. Results: if UACR was ≤ 1.0 g/g. Out of 353 AEs, only 26 (7.4%) were related to AS. In addition to UACR, neutrophil gelatinase-associated lipocalin, clusterin, and kidney injury molecule-1 correlated with the eGFR slope. Conclusion: In patients with AS receiving standard of care, rapid decline in kidney function strongly correlates with UACR and AEs related to the underlying medical condition are rare. Both findings enrich the design of future interventional trials.