September 2014

On September 1‚Äč9, 2014 the University of Minnesota launched a new study A Natural History Study to Observe Disease Progression, Standard of Care and Investigate Biomarkers in Alport Syndrome Patients also known as the“Athena Study” (

This study is funded by Regulus Therapeutics, San Diego, CA, and is being conducted by Dr. Michelle Rheault and Dr. Clifford Kashtan both at the University of Minnesota and other centers in the US and around the world.

The purpose of this study is to collect data to characterize or measure the progress of kidney disease in Alport syndrome patients over the course of 6 to 24 months.  We hope to establish the rate of change of certain renal biomarkers in subjects whose renal function is steadily declining.  No treatment for Alport syndrome will be provided in this study and you may remain on any medications prescribed by your physician.

If you are interested in participating in this study or wish to have your child participate in this study you should meet the following inclusion criteria:

·         16 years of age or older

·         have a confirmed diagnosis of Alport syndrome (by skin or kidney biopsy and through  genetic testing

·         a documented glomerular filtration rate (GFR) of 30-75 ml/min, either estimated by MDRD or measured through iohexol GFR within the past 6 months. If you don’t know your GFR, either your local nephrologist or the study coordinator can help you to determine this

·         serum creatinine obtained within the last six months
be able to understand and comply with the requirements of the study and able to provide written consent (subjects age 16 or 17 must be able to provide assent)

For more information about the study you can contact Sarah Lemmage at 612-626-7632.

A Prospective Study of Microalbuminuria in Untreated Boys with Alport Syndrome

The study is closed to accrual.

Study Aims: To determine the average ages of onset of microalbuminuria and overt proteinuria in untreated boys with Alport syndrome and determine the average duration of microalbuminuria before transition to overt proteinuria in untreated boys with Alport syndrome.

National Institutes of Health Diabetes and Digestive and Kidney Diseases Multi-Site Feasibility Study

Study Aim 1: To establish that a defined group of nephrology centers has access to sufficient numbers of males and females with Alport syndrome to participate in clinical trials focused on two clinical targets, microalbuminuria and overt proteinuria.
Five regional recruitment centers will participate:

  • United States: Alport Syndrome Treatments and Outcomes Registry (ASTOR), a collaborative effort of the University of Minnesota and the University of Utah
  • Canada: University of Toronto and the Hospital for Sick Children
  • China: Peking University First Hospital
  • France: Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et d l'Adulte (MARHEA), located at the Clinique Maurice Lamy Hopital Necker-Enfants Malades, Paris
  • Germany: European Alport Registry, located at University of Göttingen

 Study Aim 2: To study the hypothesis that in males with AS urinary uromodulin excretion decreases as albuminuria and proteinuria increase and that uromodulin offers an independent and insightful measure of renal fibrosis and response to therapy.

Enrollment began in August 2013

University of Minnesota

Urinary biomarkers of the progression of Alport kidney disease

Specific Aim: to develop urinary biomarker assays specific for Alport Syndrome glomerular disease. These biomarkers will be necessary to predict progressive renal disease and to gauge response to investigational compounds in future clinical trials of investigational compounds.

Enrollment closed in June 2013.

Novartis Institutes for BioMedical Research

Human urine sample collection for Alport nephropathy biomarker studies

Specific Aim: study early markers of renal disease progression that can serve as surrogates for hard endpoints like end-stage renal disease, decreased glomerular filtration rate or biopsy-proven fibrosis.

Enrollment closed in June 2013.

© 2019 Alport Syndrome Treatments and Outcomes Registry All rights reserved.