Prospective Cohort Study in Alport Syndrome Patients Under Standard Therapy

Area of Science:

• Nephrology
• Genetics
• Clinical Trials

Background:

• Alport syndrome (AS) is a common genetic kidney disease with variable progression.
• Understanding AS progression is crucial for designing effective interventional trials.

Purpose of the Study:

• To generate data for designing future interventional trials in Alport syndrome.
• To characterize the progression of kidney function decline in AS patients.

Main Methods:

• A global, multicenter, prospective observational study.
• 165 patients aged 12-65 with confirmed AS and eGFR 45-90 ml/min were followed for up to 120 weeks.
• Data collected included blood/urine samples, history, genotype, adverse events, and outcomes.

Main Results:

• Baseline urine albumin-to-creatinine ratio (UACR) > 1 g/g predicted rapid eGFR decline (slope -10.16 ml/min/year).
• Yearly eGFR slope varied by AS type: -6.7 in X-linked males, 0.6 in X-linked females, -1.66 in autosomal patients.
• Adverse events related to AS were rare (7.4% of 353 AEs).

Conclusions:

• Rapid kidney function decline in AS correlates with UACR.
• Adverse events related to AS are infrequent under standard care.
• Study findings support the design of future Alport syndrome interventional trials.