In a critical development for families affected by a rare neurodegenerative disorder, the National Institute for Health and Care Excellence (NICE) has announced that patients currently receiving cerliponase alfa (Brineura) for neuronal ceroid lipofuscinosis type 2 (CLN2) will continue treatment permanently, even as the agency stops short of recommending the therapy for routine NHS use.
The agreement, reached between NICE, NHS England, and manufacturer BioMarin, ensures that children already benefiting from the enzyme replacement therapy—as well as those who begin treatment before December 2025 or before final guidance is published—will not lose access to this life-changing medication.
Treatment Efficacy and Cost Challenges
Cerliponase alfa, marketed as Brineura, is administered directly into the brain via a surgically implanted permanent access device. Clinical data shows the treatment effectively slows the progression of CLN2, a rare and devastating form of Batten disease that typically manifests in children between ages 2 and 4 and leads to rapid neurological deterioration.
However, at a list price exceeding £500,000 per patient annually, NICE's evaluation committee determined the treatment's cost far exceeds what can be considered an effective use of NHS resources, particularly given the limited evidence of long-term effectiveness.
Helen Knight, Director of Medicines Evaluation at NICE, explained: "After reviewing new NHS data, our committee found that while cerliponase alfa clearly slows CLN2 in the short term, there's still not enough evidence about its long-term benefits."
Special Considerations for Ultra-Rare Disease
The committee acknowledged the severity of CLN2 and the significant impact of cerliponase alfa on patients' quality and length of life. In recognition of these factors, NICE applied a cost-effectiveness threshold 1.5 times higher than normally used for ultra-rare conditions—and 5 to 8 times higher than standard evaluations.
Despite these special considerations, the proposed price remains prohibitively high without stronger evidence of sustained efficacy.
Impact on the Patient Community
CLN2 affects approximately 30 to 50 children across the UK, with only 3 to 6 new diagnoses each year. For this small but deeply affected community, access to cerliponase alfa represents a crucial lifeline.
The treatment has been available to NHS patients through a temporary "managed access period" while additional evidence on its benefits was collected. This arrangement has been extended several times and will now continue until December 2025, or until NICE publishes its final recommendations if earlier.
Pathway Forward
Knight emphasized that negotiations continue: "We know this is not entirely the news people in the Batten disease community were hoping for. However, this is not the end of the story. We will continue to work with all parties towards a solution."
NICE, NHS England, and BioMarin remain committed to finding a long-term arrangement that could secure access for all eligible patients beyond 2025. The public consultation on the draft guidance remains open until June 6, 2025, with final decisions expected later this year.
"NICE, together with NHS England, remains committed to working with the company to try to reach a long-term deal that will give access to cerliponase alfa to all eligible people after that time," Knight added.
For families confronting this devastating diagnosis, the outcome of these ongoing negotiations will have profound implications for treatment access and disease management in the years ahead.
