BioMarin’s Brineura (cerliponase alfa) has been made available on the NHS for children with neuronal ceroid lipofuscinosis type II (CLN2) – also known as Batten disease.

The drug, which was deemed too costly for use by the organisation in February 2018, is an enzyme replacement therapy administered directly into the brain via a surgically implanted permanent access device; a year’s treatment costs more than £500,000 per patient.

The national Institute for Health and Care Excellence (NICE)’s Highly Specialised Technology committee noted that although the treatment is not a cure for Batten disease, it is an important development for treating the condition, and that it has shown substantial short-term benefits in slowing the rate at which it progresses.

The progressive condition is caused by deficiency of the enzyme tripeptidyl peptidase 1, causing abnormal storage of proteins and lipids in neurons and other cells, preventing their normal function.

Symptoms begin from around the age of two years and can then progress rapidly with the onset of seizures, decline in speech, loss of mobility, involuntary muscle spasms, progressive dementia and visual impairment leading to blindness. Average life expectancy is just 10 years, with an estimated 25 – 40 children living with the condition in England.

Currently there is no cure or life-extending treatment available for the condition, as so clinical management is focused on symptom relief and supportive and palliative care.

Health secretary Matt Hancock said that the decision is thanks to the UK’s “strong economy”, and the extra £33.9 billion being put in to the NHS.

He continued, “I’m absolutely delighted this new treatment will be funded by the NHS, giving families dealing with the devastating impact of Batten disease renewed hope for a better quality of life for their child.

“Through our Long Term Plan, we want all patients to have access to the most pioneering, value for money medicines - this is a great example of how we can work with industry to get treatments to patients as quickly as possible.

Over the next weeks, NICE has announced that it will be working with NHS England, BioMarin, clinicians and the Batten Disease Family Association on the details of the managed access agreement.