UK Families Face Uncertain Future for Rare Disease Treatment

Image credits: Andy Stenning/Daily Express

The parents of children with a rare neurodegenerative disease, CLN2 Batten disease, are in a state of distress as they face the possibility of losing access to the only approved treatment that slows the condition's progress. The treatment, known as Brineura or cerliponase alfa, has been provided to eligible NHS patients under a managed access agreement since 2019, but this agreement is set to expire in May. The National Institute for Health and Care Excellence (NICE) has described talks with NHS England and the drug's developer, BioMarin, as "constructive," but a decision on permanent access has yet to be made.

CLN2 Batten disease is an incurable genetic disorder that affects approximately 40 children in the UK, causing rapid decline in their ability to walk, talk, and see. The disease leads to progressive dementia, and without treatment, the average life expectancy is about 10 years. The enzyme replacement therapy, Brineura, works by synthetically delivering a missing enzyme responsible for clearing waste from brain tissue, thereby slowing the progression of disability. Parents of affected children have reported significant improvements in their children's quality of life, with some able to attend school, communicate, and engage in activities they enjoy.

The cost of Brineura is a significant factor in the funding decision, with a fortnightly 300mg dose costing £522,722 per patient annually. While NICE has twice refused funding for the drug, a Supreme Court battle led to the establishment of a managed access agreement in 2019. The agreement has been extended for six months, but the future of the treatment remains uncertain. Parents and advocacy groups, such as the Batten Disease Family Association, are worried that a price has effectively been placed on life, with some fearing that children who are unable to walk or talk may be deemed less worthy of treatment.

A list of key stakeholders and their views on the issue includes: * Parents of children with CLN2 Batten disease, who are advocating for continued access to Brineura * The Batten Disease Family Association, which is supporting families and pushing for a positive funding decision * NHS England, which is engaged in commercial discussions with BioMarin * NICE, which is evaluating the clinical and cost-effectiveness of Brineura * BioMarin, which is committed to enabling continued access to the treatment. The neurodegenerative disease has a profound impact on families, with parents describing the emotional toll of watching their children deteriorate and the stress of fighting for access to treatment. As one parent noted, "It's hard because you're being asked questions about your child's quality of life, and you're having to prove that your child has a right to live."

The situation has sparked a wider debate about the value of life and the role of cost-effectiveness in healthcare decision-making. As the decision on Brineura's funding approaches, families and advocacy groups are urging policymakers to consider the human impact of their choices. With the treatment's future hanging in the balance, the healthcare community is watching closely to see how this critical issue will be resolved, and whether the NHS will continue to provide access to this life-changing treatment.