Urinary Biomarkers of the Progression of Alport Kidney Disease
Condition: Alport Syndrome
MeSH terms: Kidney Diseases; Nephritis, Hereditary
Study type: Observational

Summary: 
      The purpose of the study is to determine if there are certain laboratory tests that can be
      performed to detect substances or features in a child's urine that can be used to measure the
      progress of Alport kidney disease and the effects of treatment. These tests and their results
      could be of use to measure responses to new treatments in future clinical trials.
    

Detailed description: 
      This is a prospective cross-sectional, observational, single-center study of affected Alport
      patients who have not progressed to advanced chronic renal insufficiency (CKD Stages 4 or 5),
      and who do not have nephrotic range proteinuria (urine protein-to-creatinine ratio > 3).
      There will be no required study site visits. Instead, encounters will occur via telephone
      with subjects when they are at home. This study consists of a single, first morning voided
      urine collection for subjects who meet eligibility criteria. Eligibility criteria and
      informed consent can be obtained via telephone in order to be as non-intrusive to the subject
      as possible.

      Alport subjects will be recruited via the Alport Syndrome Treatments and Outcome Registry
      (ASTOR, University of Minnesota). ASTOR is the largest Alport Syndrome registry in the USA,
      comprised of approximately 500 people affected by Alport Syndrome. Subjects who meet
      eligibility criteria will be asked to provide clinical and demographic information and a
      single urine sample. A portion of the de-identified sample will be sent to Covance
      Laboratories for processing for Novartis and the remainder will be processed, stored and
      analyzed at the University of Minnesota. Subjects who provide consent will be given a kit and
      instructions for collecting the urine sample. Kits will then be returned via overnight
      courier to the study site. ASTOR study personnel will then communicate with subjects via the
      telephone to confirm proper first-morning void collection technique, and to obtain clinical
      historical information.

      Approximately 80 Alport subjects will be enrolled in this study via ASTOR. Of the 80 Alport
      subjects, approximately 25% (N = 20) should have no significant proteinuria (spot urine
      protein-to-creatinine ratio ≤ 0.2), and approximately 75% (N = 60) should have non-postural,
      non-nephrotic proteinuria (defined as spot urine protein-to-creatinine ratio > 0.2 and < 3 on
      at least 2 of the last 3 clinical assessments). Approximately 40 healthy volunteers will
      provide urine samples elsewhere, outside the scope of this protocol. Healthy volunteer urine
      samples need not be first-morning voided specimens, however each specimen will be screened
      via dipstick for semi-quantitative protein analysis. Only samples with negative or trace
      protein on dipstick will be included in the study.

      Informed consent forms will be included in the kit sent to each eligible Alport subject.
      Informed consent will take place via telephone, and preferably via video chat/Skype whenever
      possible.
    

Observational model: Family-Based
Time perspective: Prospective
Sampling method: Probability Sample
Study population: 
        The study population will be comprised of male and female subjects ≥ 5 years of age, with
        or without existing Alport genotyping, regardless of specific genotype, and who meet all
        other eligibility criteria. Subjects with existing Alport genotyping are preferred. Alport
        subjects will be enrolled via ASTOR, and healthy volunteers will be enrolled elsewhere,
        outside the scope of this protocol. Approximately 80 Alport syndrome subjects will be
        enrolled in this study. Of the 80 subjects, 75% (N = 60) should have non-postural,
        non-nephrotic proteinuria (defined as spot urine protein-to-creatinine ratio < 3 on at
        least 2 of the last 3 clinical assessments).
      
Biospecimen description: 
      Subjects submit first morning urine. Portion of urine retained for ASTOR repository.