ATHENA: Natural History of Disease Study in Alport Syndrome Patients

A Natural History Study to Observe Disease Progression, Standard of Care and Investigate Biomarkers in Alport Syndrome Patients

There is limited published clinical data about the natural history of renal disease in Alport syndrome. The RG012-01 study will collect data to characterize the progression of renal dysfunction in Alport syndrome patients.

Patients with a confirmed diagnosis of Alport syndrome who have qualifying GFR will be considered for enrollment. The sequential sampling of subjects' urine and/or blood will allow an assessment of the rate of change of established clinical endpoints, such as GFR and/or the rate of change of other renal biomarkers (proteinuria and β-2 microglobulin) in subjects whose renal function is steadily declining. The identification of surrogate markers that track the decline of renal function and could correlate with time to end-stage renal disease (ESRD) is a key goal of the natural history study.

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.