SMC approval of mercaptamine offers new hope and choice for people living with cystinosis in Scotland
In a landmark decision, the Scottish Medicines Consortium (SMC) has today (10 November) accepted a new treatment – mercaptamine (brand name Procysbi) – for people in Scotland living with cystinosis, a rare disease affecting about one in every 100,000 to 200,000 newborn babies.
The decision marks a pivotal moment for people – mainly children and young adults – living with cystinosis and their families by introducing a long-awaited choice in primary treatment in Scotland for the first time.
What is cystinosis?
Caused by a genetic mutation, cystinosis results in the build-up of crystals of the amino acid cystine in the body’s cells. These initially form in the kidneys and eyes and later in muscles, pancreas, thyroid gland and white blood cells.
What this means for patients
Mercaptamine (Procysbi) is taken every 12 hours. Previously, the only other treatment for cystinosis has been cysteamine (Cystagon), which must be taken four times daily - including a dose in the middle of the night – and has a huge impact on patients and their families as it also often leads to repeated vomiting.
The approval of this 12-hourly delayed release formulation of mercaptamine means patients and carers can now choose whether this better suits their individual circumstances, lifestyles, and tolerability needs.
“For years, Scottish patients have had no choice in how their condition is managed,” explained Alex Hutchison, a trustee at Cystinosis Foundation UK. “The acceptance of this treatment both validates the lived experience of those who advocated for its inclusion and empowers families to make treatment decisions that reflect their daily realities.
“This is great news for people living with this rare disease and their families.” explained Alison Railton, director of policy and public affairs at Kidney Research UK.
“Having access to this treatment could make a meaningful difference, particularly for children and their parents. The twice-daily dosing means families no longer need to wake during the night, supporting a more consistent night’s sleep.
“We believe everyone living with cystinosis should have access to the most effective treatments available to prevent them from developing kidney disease and eventually needing dialysis or a kidney transplant.”
A significant milestone
Laura Smith van Carroll, head of insight and advocacy at Metabolic Support UK, said: “As an organisation founded by a family whose child was diagnosed with cystinosis, we understand firsthand the challenges that come with managing this rare and complex condition.”
“The approval of this treatment in Scotland marks a significant milestone for the cystinosis community, offering treatment choice, as well as the potential for improved quality of life of both those living with and caring for.
“We would like to thank everyone who participated in and helped disseminate the cystinosis survey, which was instrumental in providing SMC with clear, reliable evidence of the lived experience”.
Important information for patients
If you are prescribed a medicine for cystinosis, please speak to your healthcare professional about how best to manage your treatment. This article is intended to provide general information and does not replace medical advice.
If you experience any side effects, speak to your doctor, pharmacist or nurse. You can also report side effects directly via the https://yellowcard.mhra.gov.uk. By reporting side effects, you help improve the safety of medicines.
Kidney Research UK partnered with the Cystinosis Foundation UK and Metabolic Support UK in contributing to the SMC consultation process.
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