Research Funded by ASF

The vision of ASF is to make Alport Syndrome a treatable disease and ultimately find a cure. The following research projects were funded by ASF through the Annual Campaign for Healthy Kidneys, individual fundraising, and collaboration with the Pedersen Family, Macquarie Foundation, and the Kidney Foundation of Canada (KFOC).

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. This award was funded by ASF and KFOC/Macquarie Foundation.

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. This award was funded by ASF and KFOC/Macquarie Foundation.

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

Alport Syndrome Treatments and Outcomes Registry (ASTOR)
Dr. Clifford Kashtan, University of Minnesota (USA)

The Alport Syndrome Treatments and Outcomes Registry (ASTOR) was established in 2007 with the goal of creating a secure, comprehensive electronic database of North American families with Alport syndrome, in order to stimulate and facilitate clinical research in Alport syndrome, including trials of promising therapies. The Alport Syndrome Foundation has provided much needed funding to keep ASTOR a fully functioning research entity.

Click here to read updates on the ASTOR team’s current projects