The enzyme replacement therapy sebelipase alfa (brand name Kanuma) has been recommended by the National Institute for Health and Care Excellence (NICE) to treat Wolman disease, its manufacturer Alexion has announced.
The final draft guidance from NICE recommends sebelipase alfa for the treatment of infants who have the ultra-rare Wolman disease – a genetic, rapidly progressive lysosomal acid lipase deficiency that causes multi-organ damage – and are under two years of age at the start of treatment.
The enzyme replacement therapy involves weekly intravenous infusions, which can be given at home, and is used alongside a restricted diet. It can allow a haematopoietic stem cell transplant to be done, if appropriate.
This will be the first treatment available on the NHS for the treatment of Wolman disease. Standard care without sebelipase alfa is palliative.
Following the recommendation, NHS England said ’the life-saving treatment will be fast-tracked to be available to any eligible patients straight away’ and will be funded via the Innovative Medicines Fund.
The final guidance is expected to be published in early January 2024.
NICE’s recommendation is based on sebelipase alfa’s clinical effectiveness evidence from two single-arm, open-label, multicentre trials: LAL-CL08 and LAL-CL03.
A natural history study (LAL-1-NH01) was also used to estimate outcomes for clinical management without sebelipase alfa.
In LAL-CL08, some 90% of people who had sebelipase alfa were alive at 12 months and 80% alive at 24 months. In LAL-CL03, a total of 67% of people who had sebelipase alfa were alive at 12 months, with 56% alive at 24 and 60 months. In LAL-1-NH01, everyone who did not have treatment died before 12 months old.
Other disease-related outcomes such as improvements in weight and length of age, nutritional outcomes and important measures of liver damage were also identified.
While the evidence suggested sebelipase alfa increases how long people live, there remains uncertainty around its longer-term effectiveness with regards to how much longer people will live or how their long-term quality of life compares with people without the condition.
Professor Simon Jones, consultant in paediatric inherited metabolic disease, at Manchester University NHS Foundation Trust (MFT), said: ‘Having shown in clinical trials at the NIHR Manchester Clinical Research Facility at Royal Manchester Children’s Hospital (part of MFT) that we could treat a fatal disease of infancy with this lifesaving drug is extremely gratifying.
‘Moving forward to treat children on the NHS is however what we all really want and signifies a substantial step forward in our dedication to practical advancements in rare disease medicine and improved patient outcomes.’
Bob Stevens, group chief executive of the MPS Society, said: ‘Today’s announcement is positive news, giving babies born with Wolman disease and their parents access to a new treatment option.
’It remains challenging to get medicines for rare diseases reimbursed but our commitment to our community of MPS and rare disease families is unwavering. Moments like this are special and are only possible through a collaborative process where the patient voice is heard, valued, and acted upon.’
