Database set-up and maintenance

I have received reimbursement of travel expenses and honoraria from Athena Diagnostics, one of several commercial laboratories offering molecular genetic testing for Alport syndrome. I am not a paid consultant for Athena and neither my family nor I has any financial interest in the company.

• I have received reimbursement of travel expenses and honoraria from Athena Diagnostics, one of several commercial laboratories offering molecular genetic testing for Alport syndrome. I am not a paid consultant for Athena and neither my family nor I has any financial interest in the company.

• The Alport Syndrome Treatments and Outcomes Registry (ASTOR) is supported by private philanthropy, the Alport Syndrome Foundation, federal funding and is engaged in research supported by the Novartis Institute for Biomedical Research.

“an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition or exposure”

• “an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition or exposure”

• “The registry is designed to fulfill specific purposes, and these purposes are defined before collecting and analyzing the data.”

Costs

• Costs

• Database set-up and maintenance

• Interviews and data entry

• Statistical support

• Personnel: coordinators, programmer, biostatistician

• Sources of financing

• Individual donors

• Foundations

• Federal government

• Industry -- pharmaceutical, diagnostic services

ASTOR is a cooperative effort of the U. of Minnesota and the U. of Utah to create an electronic database of all Alport families in North America

• ASTOR is a cooperative effort of the U. of Minnesota and the U. of Utah to create an electronic database of all Alport families in North America

• ASTOR’s goals are to perform studies of early markers of disease progression and to work with registries in Europe and elsewhere to test promising therapies for Alport syndrome

• Study 1: A Prospective Study of Microalbuminuria in Untreated Boys with Alport Syndrome (2008-12)
• Study 2: Urinary Biomarkers of Alport Kidney Disease Progression (2012-13)

• Over 400 families have enrolled since ASTOR went live in September, 2007

Objectives

• Objectives

• To determine mean ages of onset of microalbuminuria and overt proteinuria
• To determine mean duration of microalbuminuria before transition to overt proteinuria

• Inclusion criteria

• Diagnosis of Alport syndrome
• Male gender
• Absence of overt proteinuria (urine protein:creatinine ratio < 0.2 mg/mg)
• No past or current treatment with angiotensin antagonists

• The ultimate goal of treatment of Alport syndrome is to prevent scarring of the kidneys (renal fibrosis)

• “Hard” markers of renal fibrosis:

• Quantitative measurement of renal fibrosis– requires kidney biopsies
• Reduced kidney function – takes too long to develop
• We need “surrogate” markers of renal fibrosis that are reliable and easily measured

Objective

• Objective

• To identify biomarkers of renal tubular injury and renal fibrosis in urine of people with Alport syndrome

• Inclusion criteria

• Diagnosis of Alport syndrome
• Glomerular filtration rate above 60 ml/min/1.73m2

• Enrollment target: 100

• Goal: to demonstrate that five Alport syndrome research centers have access to sufficient numbers of children and adolescents with Alport syndrome to populate a clinical trial aimed at delaying development of microalbuminuria and proteinuria by very early intervention

• Supported by the National Institute for Diabetes, Digestive and Kidney Diseases (NIDDK)