ASF Research Program

The vision of ASF is to find novel treatments and a cure to prevent kidney failure and hearing loss in all patients with Alport Syndrome.

Funding is provided for basic science or clinical research on Alport Syndrome. These funds may be used as seed funding for the testing of initial hypotheses and the collection of preliminary data leading to successful long-term funding by the National Institutes of Health (NIH), the Canadian Institutes of Health Research (CIHR), or other major funding institutions around the world.

ASF is forming strategic partnerships to increase the amount of resources applied to making Alport Syndrome a treatable disease. ASF has partnered with the Pedersen Family, and the Kidney Foundation of Canada (KFOC) to fund groundbreaking research on Alport Syndrome. ASF is also working to form additional partnerships with other international groups and provides support to the patient registry, ASTOR.

ASF funds the research program through the Annual Campaign for Healthy Kidneys, individual fundraising, and strategic partnerships.

Patients play a key part in research by:

It is an exciting time for Alport Syndrome research. There are therapies that are being developed now that promise to improve the treatment of Alport kidney disease and further postpone the need for dialysis and kidney transplantation. Please consider playing your part in advancing research on Alport Syndrome.

The call for proposals is announced in the first quarter of each year. Applications are due two months later and funding is announced in June.

Funded Research

The following research projects were funded by ASF, the Pedersen Family, and the Kidney Foundation of Canada (KFOC).

Awarded 2016

Search for therapeutic reagents by modeling Alport syndrome in mice and humans
Dr. Hirofumi Kai, Kumamoto University (Japan)

Dr. Hirofumi Kai was awarded $100,000 for a two-year study on the Search for therapeutic reagents by modeling Alport syndrome in mice and humans. The study aims to accelerate the understanding of the progression of Alport Syndrome by investigating chemical compounds that induce COL4A3/4/5 formation; identifying key factors in podocytes upstream (modulators) and downstream (effectors) of p53 (tumor suppressor gene that has a protective effect on the kidney in Alport Syndrome mice models); and validating findings using induced pluripotent stems cells (iPS cells) from people who have Alport Syndrome.

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

5-Ht2b Antagonism As A Strategy To Prevent Renal Function Loss In Alport Syndrome
Dr. Jeffrey Miner, Washington University (Missouri, USA)

Dr. Jeffrey Miner was awarded $100,000 for a one-year study to investigate 5-Ht2b Antagonism As A Strategy To Prevent Renal Function Loss In Alport Syndrome. This research study seeks to prove that preventing activation of the serotonin receptor 2B (also known as 5-HT2B) will reduce kidney fibrosis (scarring), slow kidney disease progression, and cooperate with ACE inhibition to prolong kidney function in Alport mice. This approach will be to “repurpose” a drug that has already been shown to be safe in humans in Phase I clinical trials.

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

Awarded 2015

Drug Repurposing for the Treatment of Experimental Alport Syndrome
Dr. James Scholey, University of Toronto (Ontario, Canada)

Dr. James Scholey was awarded $100,000 for a one-year study on Drug Repurposing for the Treatment of Experimental Alport Syndrome. The study will target the patterns of gene expression in the kidney associated with the progression of kidney injury using the  FDA-approved drug vorinostat . It will be determined if this drug prolongs the lifespan of mice and if combined treatment with ACE inhibitors provides additional benefit.

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

WISE Antibody as a Treatment for Alport Syndrome
Dr. Jeffrey Miner, Washington University (Missouri, USA)

Dr. Jeffrey Miner was awarded $76,500 for a one-year study on WISE Antibody as a Treatment for Alport Syndrome. The goal of this study is to test the effectiveness of 2 antibodies at slowing the progression of kidney failure both separately and with ACE inhibition in mice models.

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

Awarded 2014

Correction of the genetic defect in Alport syndrome using the TALEN approach
Dr. Judy Savige, University of Melbourne (Australia)
Dr. Sharon Ricardo, Monash University (Australia)

Dr. Judy Savige and Dr. Sharon Ricardo were awarded $100,000 for a one-year study on Correction of the genetic defect in Alport syndrome using the TALEN approach. This research study will attempt to repair the genetic mutations in cell lines from patients with Alport syndrome due to missense and nonsense mutations, confirm that these mutations are corrected in vitro and that the mutation is repaired, as well as to determine any increase in cell stress or apoptosis.

Click here to read Dr. Savige‘s and Dr. Ricardo‘s full research abstract.

Podocyte response to injury in Alport Syndrome: an answer from human amniotic fluid kidney progenitors
Dr. Stefano Da Sacco, Saban Research Institute at Children‘s Hospital Los Angeles (California, USA)

Dr. Da Sacco was awarded $100,000 for a one-year study on Podocyte response to injury in Alport Syndrome: an answer from human amniotic fluid kidney progenitors. The study will evaluate recently identified renal progenitors from human amniotic fluid that can be differentiated in vitro into mature and functional podocytes. The physiology and pathology of the podocytes will be investigated in order to better understand the response of these cells to therapeutic compounds.

Click here to read Dr. Da Sacco‘s full research abstract.

Awarded 2013

Nephroprotective and antifibrotic potential of microRNA-21 in the COL4A3 knockout mouse model of Alport syndrome
Dr. Oliver Gross, University Medical Centre Göttingen (Germany)

Dr. Oliver Gross was awarded $98,500 for a one year study on the Nephroprotective and antifibrotic potential of microRNA-21 in the COL4A3 knockout mouse model of Alport syndrome. The research project goals are to evaluate anti microRNA-21 therapy in reducing renal fibrosis and promoting podocyte functioning.

Click here to read Dr. Gross‘s full research abstract

Derivation and Characterisation of induced pluripotent stem cell lines from patients with X-Linked Alport syndrome — a model for examining mechanisms and therapies
Dr. Judy Savige, University of Melbourne (Australia)
Dr. Sharon Ricardo, Monash University (Australia)

Dr. Judy Savige and Dr. Sharon Ricardo were awarded $98,600 for a one year study on the Derivation and Characterisation of induced pluripotent stem cell lines from patients with X-Linked Alport syndrome ““ a model for examining mechanisms and therapies. The research project will use reprogrammed adult stem cells to generate podocytes which will be examined to evaluate how Alport syndrome mutations are produced and to investigate treatments targeting these mutations.

Click here to read Dr. Savige‘s and Dr. Ricardo‘s full research abstract

Awarded 2012

Defining Efficacy of Combination Drug Therapy in Alport Mice
Dr. Jeffrey Miner, Washington University (Missouri, USA)

Dr. Miner was awarded $100,000 for a one year study on Defining Efficacy of Combination Drug Therapy in Alport Mice. The goal of this proposal is to determine whether combined therapy with both and ACE inhibitor and a proprietary inhibitor of chemokine receptor 2 and 5 (CCR2 and CCR5) activation will have a synergistic effect at slowing Alport disease progression and will extend life span even more than the ACE inhibitor alone.

Click here to read Dr. Miner‘s full research abstract
Click here to read about Dr. Miner‘s recent research on gene therapy

Awarded 2011

Amniotic Fluid Stem Cells (AFSC) and Alport Syndrome
Dr. Laura Perin, Saban Research Institute at Children‘s Hospital Los Angeles (California, USA)

Dr. Perin was awarded $100,000 for a two-year research project on Amniotic Fluid Stem Cells (AFSC) and Alport Syndrome. Dr. Perin proposes to use Amniotic Fluid Stem Cells (AFSC) as a novel approach to reversing fibrosis in AS.

Click here for more information on Amniotic Fluid Stem Cells (AFSC)
Click here for to read Dr. Perin‘s full research abstract

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