A research funding program run by the Alport Syndrome Foundation (ASF), the Pedersen family and the Kidney Foundation of Canada has awarded two researchers $100,000 each to advance projects on Alport syndrome.
The program supports studies that seek new ways to prevent kidney damage and hearing loss in Alport patients. It places emphasis on research to identify and investigate target pathways in disease progression, as well as studies that look at repurposing existing therapies or otherwise improving patient care.
This year’s winners are Alessia Fornoni, a professor of medicine and of molecular and cellular pharmacology at Florida’s University of Miami, and genetics professor Constantinos Deltas, director of the Molecular Medicine Research Center at the University of Cyprus. Each received $100,000 to advance their projects.
Fornori’s study, “Targeting podocyte lipotoxicity in Alport syndrome,” is a 15-month project. In Alport, mutations in type IV collagen genes cause kidney basement membranes to express abnormal collagens. These collagens activate receptors, leading to the uptake of fatty acids and cholesterol into podocytes, injuring crucial kidney cells that attach to the basement membrane. Fornoni will study this injury pathway through the use of cell cultures.
Working in a mice model of Alport, he will see if an existing cholesterol drug, ezetimibe, might prevent progression of kidney disease by blocking fatty acid and cholesterol absorbtion into podocytes.
Deltas, whose 18-month study is titled “Repurposing of FDA approved chemical chaperones to the rescue of a mouse model of Alport syndrome,” will research a mutation that leads to abnormal folding of the type IV collagen protein, causing it to break down before reaching the basement membrane. His research involves using chaperone medicines — 4-phenylbutyric acid (PBA) and tauroursodeoxycholic acid (TUDCA) — to see if they might help the collagen protein reach the membrane intact. His theory, to be tested in a mice model, is that the arrival of type IV collagen, even with a mutation, at the basement membrane will improve long-term kidney function.
“Our vision is to conquer Alport syndrome by preventing kidney failure and hearing loss in all patients,” Sharon Lagas, board president of the Arizona-based Alport Syndrome Foundation, said in a press release. “We are accomplishing this by working with our funding partners and collaborating with the international community to build a research agenda that will lead to novel treatments for Alport syndrome patients.”