Using urine samples to test new gene therapy treatments for nephronophthisis
Nephronophthisis is an inherited condition which affects the kidneys. Currently there are no medications to slow or reverse the effects of nephronophthisis, and it is the most common cause of kidney failure in children and young adults.
With our support, generously co-funded by The Cook Fund, of £110,000, Professor John Sayer and his team will use kidney cells from urine samples of patients with nephronophthisis to test a potential new drug treatment.
We need new treatments for nephronophthisis
Nephronophthisis is inherited. People with the condition have genetic alterations in certain genes. Proteins made from the instructions coded for by these genes are found in cilia.
Cilia are small structures found on the surface of cells that act as ‘antennae’, helping the cell to respond to changes. Changes to the cilia can cause the cells to respond in the wrong way to their environment, and that can result in the formation of cysts.
In nephronophthisis scar tissue and cysts form, replacing healthy tissue in the kidney, causing loss of kidney function. This often begins in childhood or young adulthood, and can lead to kidney failure, with treatments options including transplant or dialysis. Currently there are no medications to prevent or slow down this progression to kidney failure.
Using urine samples to test new treatments
When the fluid that forms urine passes through tiny tubes within the kidney, some of the cells lining these tubes are shed. This means that cells from inside the kidney can be studied in urine samples.
Meet Professor John Sayer
Professor John Sayer is a consultant nephrologist and works at Newcastle University researching nephronophthisis and other diseases involving the cilia of the kidneys. The paediatric and rare disease PhD Studentship grant of £110,000 will mean John and his team can continue their previous work using kidney cells found in urine samples from patients with nephronophthisis to test new treatments. By testing a gene therapy medicine, they will see if they can rescue the cilia and whether this could be a potential treatment for nephronophthisis in the future.
“Most of the patients I see who have nephronophthisis reach kidney failure in their childhood or teenage years and need dialysis or a transplant. Researching this condition for several years I’ve been working with as many families as I can to try and find new ways to diagnose nephronophthisis sooner and identify new treatments to try and prevent these children and teenagers reaching kidney failure.”Professor John Sayer
Could gene therapy be used to protect the kidneys in nephronophthisis?
There are several different types of genetic alterations that can cause nephronophthisis. Some of these changes mean the instructions coded for in the gene are not fully read, resulting in an unfinished protein that may not function properly.
Gene therapy medicines work by fixing genetic alternations in a gene or replacing the gene to treat or prevent disease. John and his team will test a gene therapy drug that tells the body to ignore certain alterations and fully read the instructions coded for in a gene. By targeting altered nephronophthisis genes they will see if this drug means complete and functional proteins are produced that make up healthy cilia.
Looking for future treatment options
John and his team will look at whether a gene therapy drug can rescue the cilia in nephronophthisis, to see if with further research gene therapy could be used as a treatment for nephronophthisis in the future.
“Using gene therapy, we hope we can rescue nephronophthisis kidney cells and improve kidney function in our nephronophthisis laboratory model. The aim of collecting this pre-clinical data is to show if gene therapy could work as a potential treatment for nephronophthisis and lead to further research and clinical trials to try and get new effective treatments for this condition to patients.” Professor John Sayer
The Cook Fund
Nick and Helen Cook are parents to three sons, all of whom have kidney disease. In collaboration with Kidney Research UK, they have developed The Cook Fund programme which is funding new research into kidney disease.
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