ASF Announcements


The Alport Syndrome Family Conference held at the University of Minnesota on July 21st through 22nd was a remarkable event.  The two-day conference was attended by nearly 200 people and offered a wide range of activities for the entire family, including the opportunity to hear the most up-to-date information about the disease from experts in the field.  In addition to presenting information at the conference, the physicians and researchers were available throughout the conference to address more specific issues and questions of attendees.  Foundation Board member Mike Panella noted: “It’s very exciting to see that there is research and that it is promising.” Although the timetable is long, Panella is optimistic that doctors “will one day be able to treat Alport Syndrome very effectively.”

The conference also provided a great opportunity for families to connect with other families who are facing similar challenges. Adults, teens and youngsters were encouraged and comforted to learn that they were not facing these issues alone

For more information about the Family Conference, including copies of the PowerPoint presentations used by the speakers, follow this link.


Foundation awards research funding to Dr. Jeffrey Miner of Washington University, St. Louis. MO

The Alport Syndrome Foundation is pleased to announce that it has awarded funding to Dr. Jeffrey H. Miner of Washington University, St. Louis, MO in the amount of $100,000 for a one year study.  His research project is entitled Defining Efficacy of Combination Drug Therapy in Alport Mice. As Dr. Miner explained, “Alport syndrome is caused by a defect in a specific type of collagen found in glomeruli, the parts of the kidney that filter the blood. Because of this defect, the filter becomes damaged over time and the adjacent cells are injured, leading to a failure in the kidney’s ability to properly filter blood. A secondary effect in Alport syndrome is damage to the tubular portions of the kidney, which modify the glomerular filtrate to make urine. This damage is caused in part by inflammatory cells of the immune system that infiltrate the Alport kidney. Using a mouse model of Alport syndrome, we propose to test the hypothesis that treatment with an ACE inhibitor already known to prolong the useful life of the glomerular filter, together with a small molecule inhibitor of inflammatory cell mobilization, will lead to an even slower rate of progression to kidney failure than with either treatment alone. In theory, the ACE inhibitor should protect the glomerular filter, and the inhibitor of inflammation should protect the tubular compartment. Should this combination drug therapy be successful in mice, it will provide the ‘proof of principle’ to justify a similar trial in human Alport patients.”

Click here to read Dr. Miner’s full research abstract

This funding would not have been possible without the support of the campaigners and donors of the 2011 Healthy Kidneys Annual Campaign. In addition to funding Dr. Miner, the Alport Syndrome Foundation is providing funding to two other researchers from funds raised during our 2010 Healthy Kidneys Campaign (as well as other fundraisers):  Dr. Laura Perin of the Saban Research Institute at Children’s Hospital Los Angeles who is studying Amniotic Fluid Stem Cells (AFSCs) and Alport Syndrome (SEE BELOW) and to the Alport Syndrome Treatments and Outcomes Registry (ASTOR) at the University of Minnesota.


ASF Awards Research Funding to Dr. Laura Perin of the Saban Research Institute, Children’s Hospital Los Angeles in 2011

The Alport Syndrome Foundation is pleased to announce that it has awarded $100,000 in funding to Dr. Laura Perin of the Saban Research Institute at Children’s Hospital Los Angeles for a two-year research project entitled Amniotic Fluid Stem Cells (AFSC) and Alport Syndrome. Dr. Perin’s research project proposes to use Amniotic Fluid Stem Cells (AFSC) as a novel approach to reversing fibrosis in AS. AFSCs appear to be a valuable alternative to both embryonic and adult stem cells, offering a new approach to tissue repair and regenerative medicine. Stem cells were discovered in amniotic fluid donated by pregnant women in 2007, representing a novel and ground-breaking finding in the field. Since then, it has become well known that AFSCs are readily available via routine antenatal testing (i.e., amniocenteses). AFSCs also appear to be much more pluripotent (i.e., able to generate a broad range of cell types) than adult stem cells, yet do not involve harming or destroying life at any stage, thus avoiding the ethical dilemma associated with the use of embryonic stem cells.

Dr. Perin’s research has application in understanding how AFSCs modulate the molecular mechanisms that reverse interstitial fibrosis in AS. Understanding how AFSCs behave in an in vivo environment will strengthen the foundation for translation into viable clinical therapies for the future, and possibly significantly delaying or avoiding End Stage Renal Failure in AS patients.

Click here for more information on Amniotic Fluid Stem Cells (AFSC)

Click here for to read Dr. Perin’s abstract – Amniotic Fluid Stem Cells (AFSC) and Alport Syndrome


The Alport Syndrome Research Collaborative ( has presented clinical practice recommendations for the treatment of people with Alport syndrome in the Journal of Pediatric Nephrology. The guidelines can be accessed at the following link:  The guidelines are aimed at standardizing therapy for people with AS.

Contact Theresa Cassidy at 612 626 7632 for additional information.