Cystinuria Pipeline Insight 2025: Redefining Treatment through Precision Therapies and Rare Disease Innovation | DelveInsight
Professor Richard Coward from the University of Bristol has received a Kidney Research UK research project grant of £230,000 to look at developing drugs that target the transportation pathway of cystine in kidney cells involved in cystinuria.
The problem with cystinuria causing kidney stones
Cystinuria is a rare inherited disease which causes repeated development of kidney stones over an individual’s lifetime. Kidney stone formation can be painful and debilitating for patients and lead to renal failure. There is no cure for cystinuria, current treatments have serious side effects for patients, and most still need surgical procedures to break up or remove the stones.
Most commonly, cystinuria is caused by changes in genes (known as mutations) involved in transporting and removing a substance called cystine from the urine in specialised structures in the kidney called the tubules. The mutations mean the ‘cystine channel’ cannot reach the surface of the cell to transport the cystine, leaving higher concentrations in the urine which can form stones.
The solution to prevent kidney stones
Richard and his colleagues will use kidney cells with mutations in the same genes involved in cystinuria attached to fluorescent proteins, meaning the location of the cystine channels can be seen under a special type of microscope. Different drugs will be tested on these cells to identify any which can move the cystine ‘channel’ to the surface of the cell. A model will then be used to see if these drugs prevent stone formation.
What could this mean for kidney patients?
By identifying new drugs which move mutated cystine channels to the membrane of kidney cells, Richard and his team hope to bring more effective and kinder treatments which prevent stone formation to patients with cystinuria.