ATHENA: Natural History of Disease Study in Alport Syndrome Patients

This is a natural history study, designed to collect data from patients with Alport syndrome with qualifying GFR. Assessments and blood and urine sample collection will be performed at Baseline and every 12 weeks thereafter, for up to 120 weeks. Scheduling of clinic visits will take in to consideration the timing of Standard of Care (SOC) visits. Alternative arrangements may be made to enable subjects to schedule a home nurse visit for study procedures instead of certain clinic visits. Remaining blood and urine aliquots will be stored and may be used in the future for the discovery, analysis, verification and/or validation of other biomarkers or test for renal disease. The samples will be kept for up to five years. Each sample will be identified only by it's barcode number and will not be individually identifiable.

Inclusion criteria

• Able to understand and comply with the requirements of the study and willing and able to provide written informed consent; pediatric subjects must be able to provide assent;
• Age 12-65 years of age;
• Confirmed diagnosis of Alport syndrome (clinical, histopathologic and/or genetic diagnosis of Alport syndrome);
• eGFR 45-90 ml/min/1.73 m2, within 30 days of enrollment.

Exclusion criteria

• Use of investigational drugs at the time of enrollment, or within 30 days, or 5 half-lives of enrollment, whichever is longer;
• Ongoing chronic hemodialysis therapy and/or renal transplant recipient.