A new treatment option for cystinosis, a rare inherited condition initially severely affecting the kidney and eyes usually diagnosed in infants, will soon be available to patients in Scotland, providing a less disruptive alternative to current treatments – and leaving England the only nation in the UK with more limited treatment options.
Nephropathic cystinosis is an inherited condition that affects around 1 in 200,000 people in the UK. It is caused by a build-up in the body of an amino acid called cystine, leading the kidneys to leak essential salt, water and potassium, which can eventually lead to kidney failure and damage to other organs.
Though the condition is very rare, it has a big impact on the lives of children and their families and carers. For decades, the main treatment option has been a medication called cysteamine, which must be administered every six hours, causes stomach irritation and gives patients bad breath. This can be disruptive to patients’ sleep, schooling and social life.
Improvements in care mean many people with cystinosis are leading longer lives. Around half the cystinosis patients in the UK are adults, who often experience muscle damage leading to swallowing and breathing problems.
The newer treatment Procysbi® (gastro-resistant mercaptamine) can be administered every 12 hours, offering those living with cystinosis and their carers a more manageable treatment schedule and proven improved quality of life.
Procysbi® has been available via the NHS in Wales since 2021, leaving England as the only nation in the UK where eligible patients cannot routinely access the medicine.
Patient charities appeal on behalf of cystinosis patients in England
Dr Graham Lipkin is Consultant Nephrologist at Queen Elizabeth Hospital Birmingham and Chair of Trustees at Kidney Care UK. He has also worked as National Lead for Cystinosis. He said:
There are three adult and paediatric expert NHSE-designated centres in England for the care of patients with cystinosis. We applaud NHS Scotland and NHS Wales for making Procysbi available for children and adults with this dreadful condition. We appeal to NHS England to allow the 200 English patients to gain access and benefits of this therapy which is supported by Cystinosis Foundation UK and Kidney Care UK.
Cystinosis Foundation UK campaigns on behalf of patients with cystinosis and provides information about this rare condition.
Over 150 kidney conditions classed as 'rare' together affect over 160,000 people in the UK. As well as cystinosis, you can find out about the rare kidney conditions on our rare kidney disease information hub.
