ATHENA: Natural History of Disease Study in Alport Syndrome Patients (RG012-01)

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.

Study Overview

• Status: Completed
• Conditions: Alport Syndrome Patients With eGFR Between 45-90 ml/Min/1.73 m2

Detailed Description

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.

• Study Type: Observational
• Enrollment (Actual): 165

Contacts and Locations

Study Locations

• Australia
  • New South Wales
    • New Lambton, New South Wales, Australia, 2305
  • Victoria
    • Parkville, Victoria, Australia, 3050
• Canada
  • British Columbia
    • Vancouver, British Columbia, Canada, V6Z1Y6
  • Ontario
    • Toronto, Ontario, Canada, M5G 2N2
• France
  • Paris, France
• Germany
  • Gottingen, Germany
• United Kingdom
  • London, United Kingdom, NW3 2QG
• United States
  • California
    • San Diego, California, United States, 92120
  • Illinois
    • Chicago, Illinois, United States, 60631
  • Minnesota
    • Minneapolis, Minnesota, United States, 55455
  • Missouri
    • Saint Louis, Missouri, United States, 63110
  • New York
    • New York, New York, United States, 10032
  • Ohio
    • Cleveland, Ohio, United States, 44195
  • Texas
    • Plano, Texas, United States, 75093
  • Utah
    • Salt Lake City, Utah, United States, 84123

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 12 years to 65 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Alport syndrome patients with eGFR between 45-90 ml/min/1.73 m2

Description

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.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
To characterize the natural decline of renal function markers (Glomerular Filtration Rate [GFR] and creatinine) in patients with Alport syndrome over the course of up to 120 weeks	Up to 120 weeks

Collaborators and Investigators

• Sponsor: Genzyme, a Sanofi Company
• Investigators: Study Director: Clinical Sciences & Operations

Study record dates

Study Major Dates

• Study Start (Actual): September 4, 2014
• Primary Completion (Actual): December 18, 2017
• Study Completion (Actual): December 18, 2017

Study Registration Dates

• First Submitted: May 9, 2014
• First Submitted That Met QC Criteria: May 9, 2014
• First Posted (Estimate): May 13, 2014

Study Record Updates

• Last Update Posted (Actual): July 2, 2019
• Last Update Submitted That Met QC Criteria: June 28, 2019
• Last Verified: June 1, 2019

More Information

Terms related to this study

• Keywords: kidney disease; Alport syndrome
• Additional Relevant MeSH Terms: Pathologic Processes; Kidney Diseases; Urologic Diseases; Disease; Urogenital Abnormalities; Congenital Abnormalities; Connective Tissue Diseases; Nephritis; Collagen Diseases; Syndrome; Nephritis, Hereditary
• Other Study ID Numbers: RG012-01