Patients and families living in England with the ultra-rare condition cystinosis will have access to a life-changing treatment, following a recent funding decision by NHS England.
The treatment – delayed-release mercaptamine bitartrate (brand name Procysbi) – means that parents will be able administer life-saving medication to their children every 12 hours, instead of every six hours. Similarly, adult patients will have more control over their medicine regimen to fit with their work and lifestyle needs. The decision by the Clinical Priorities Advisory Group (CPAG) – which assesses medicines, medical devices and treatments according to their clinical effectiveness, benefit for patients and value for money – brings England into line with Scotland, Wales and Northern Ireland where Procysbi is already available.
The news comes after more than three years of campaigning by Cystinosis Foundation UK, Metabolic Support and Kidney Research UK.
Caused by a rare 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. The only treatment available until now has to be taken four times daily – including a dose in the middle of the night – and has a huge impact on patients and their families, including lack of sleep, as well as many other life-impacting side effects.
“We are simply delighted,” said Will Newman, Chair of Trustees for Cystinosis Foundation UK. “This comes as a huge relief as now our patients and families will be able to have a full night’s sleep. It feels that common sense has prevailed and equity has been restored by giving choice to all cystinosis patients in the UK.”
“It has been a tortuous process requiring lots of people to work together to bring about this momentous change. Some of our patients living with cystinosis have not had a full night’s sleep for over 40 years.
He added: “The approval means patients and carers can now explore whether this formulation better suits their individual circumstances, lifestyles, and tolerability needs.”
“We are delighted that NHS England has agreed to fund the use of Procysbi for patients with cystinosis,” added David Game, Consultant Nephrologist and Clinical Lead for the Delayed-Release Mercaptamine Policy Proposal.
He added: “We are acutely aware that this has been a frustratingly long time to wait. Thanks to all involved in the policy submission: clinicians, charities and other stakeholders together with those lobbying independently for this treatment.”
“We hope this will improve quality of life for patients and their families: truly a team effort.”
For people living with cystinosis, this means the possibility of keeping more closely to their treatment regimen, experiencing fewer side effects, and following a treatment schedule that better fits with daily life. This is particularly important for children, young people, and working adults whose routines can be disrupted by frequent dosing.
Cystinosis Foundation UK would like to acknowledge the huge support from partner organisations Metabolic Support and Kidney Research UK who have given valuable guidance and practical help throughout the process of making this treatment accessible to the people who matter.
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.
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