New study to investigate potential treatments for childhood cystic kidney disease

11 February 2022

With our funding, Professor John Sayer and his team at Newcastle University will test a panel of candidate drugs to try to find a treatment for nephronophthisis (NPHP).

The most common genetic cause of kidney failure in young people

NPHP is an inherited condition that causes scarring and cysts to form in the kidney. It is the most common genetic cause of kidney failure in children and young adults. Beyond dialysis and transplantation there are currently no treatment options, and many children will require a kidney transplant before they turn ten.

John and his team have significantly increased our understanding of NPHP in recent years. They have developed animal models that carry the gene faults seen in patients and they have also developed a way to grow kidney cells taken from patient urine samples. They have identified several promising treatments, but as yet, none of these treatments have been suitable for treating all patients.

Professor John Sayer

Screening a panel of drugs

The team have been searching for potential broad-spectrum drug treatments that could be used to treat all NPHP patients. They tested 1120 drugs and found that a number of them could restore diseased mouse cells to normal. The team then found that 12 of these were able to treat patient cells.

We have awarded John a project grant to analyse these 12 drugs in kidney cells taken from a number of different NPHP patients who have different faults in their genes. The team will also test these drugs in their mouse models of NPHP.

What does this mean for patients?

We know how each of the drugs tested work, so identifying those which can target NPHP also gives us more information about how this disease develops and progresses. If successful, this work could lead to a new treatment for NPHP.

“This funding will allow vital work into the development of new treatments for nephronophthisis, a childhood and adult form of kidney failure, which is often silent and for which there is no current therapy,” said John. “I owe it to all the families worldwide affected by nephronophthisis to explore new treatments and seek a cure for this condition.”

John’s work is funded by a Research Project Grant from Kidney Research UK for £224,760