NHS England has recommended Chiesi’s delayed-release mercaptamine bitartrate (a cystine-depleting agent) for routine commissioning for eligible patients living with nephropathic cystinosis. The decision means eligible patients aged one year and above who meet the defined clinical criteria* can access an additional treatment option through NHS England specialised services, expanding choice for people living with this condition.

Nephropathic cystinosis is an ultra-rare, progressive condition affecting around 200 people in the UK. The disease is caused by the accumulation of cystine, an amino acid, within cells throughout the body. This can lead to tissue and organ damage, particularly in the eyes and kidneys. Around 150 patients are estimated to be eligible for delayed-release mercaptamine bitartrate under NHS England’s new commissioning policy.

Care for people with nephropathic cystinosis is often complex, time-consuming and demanding for both patients and their families. With treatment options previously limited, requiring multiple daily doses, this treatment option with a twice-daily dosing schedule, can potentially help reduce disruption to daily routines for patients and carers, improve adherence, delay complications and improve patients’ quality of life.

David Game, Consultant Nephrologist and Clinical Lead for the Delayed-Release Mercaptamine Policy Proposal said: “We welcome NHS England’s decision to routinely commission delayed-release mercaptamine bitartrate for eligible people with nephropathic cystinosis. Nephropathic cystinosis is a lifelong condition, and this decision marks an important milestone for the cystinosis community in England. By providing eligible patients and their clinicians with access to an additional treatment option, it supports treatment decisions based on individual patient needs and reflects the collaborative efforts of clinicians, patients, families and patient organisations throughout the policy process.”

David Garzón, Senior Director, Rare Diseases at Chiesi UK and Ireland, added: “This is an important milestone for the nephropathic cystinosis community in England, providing an additional treatment option for these patients with a twice-daily dosing regimen, that can help alleviate some of the treatment burden for patients and their families. Following earlier reimbursement decisions in Northern Ireland, Wales and Scotland, this decision marks an important step towards more equitable access across the UK, reflecting the collaborative efforts of clinicians, patient organisations, patients and families.”