Sebelipase alfa is recommended as an option for long-term enzyme replacement therapy in Wolman disease (rapidly progressive lysosomal acid lipase deficiency [LAL-D]), only if people are 2 years or under when treatment starts. It is recommended only if the company provides sebelipase alfa according to the commercial arrangement.
This recommendation is not intended to affect treatment with sebelipase alfa that was started in the NHS before this guidance was published. People having treatment outside this recommendation may continue without change to the funding arrangements in place for them before this guidance was published, until they and their NHS clinician consider it appropriate to stop. This decision should be made jointly by the clinician, the child, and their parents or carers.
Why the committee made these recommendations
Wolman disease is a rare genetic condition that presents in babies and children under 2 years old. It causes a build-up of fat in cells in the liver, heart, blood vessels, and digestive system. Without treatment, the baby or child will not survive. There are no treatments for Wolman disease available in the NHS. Standard care without sebelipase alfa is palliative. Sebelipase alfa is used as an enzyme replacement therapy alongside a restricted diet, and can allow a haematopoietic stem cell transplant to be done, if appropriate.
Clinical trial evidence suggests that sebelipase alfa increases how long people live. But it is not clear how much longer people will live or how their long-term quality of life compares with people without the condition.
Haematopoietic stem cell transplant is an option for people having sebelipase alfa, those who can no longer have sebelipase alfa, or when sebelipase alfa stops working. People may choose to have a transplant to reduce the need for a restricted diet and regular sebelipase alfa treatment, but there are risks associated with a transplant. It is not clear when transplants are done and what proportion of people have them. After a transplant, it is not clear how much the dose of sebelipase alfa can be reduced. These uncertainties are higher for transplants that happen later in life. It is also not known what proportion of people would remain on sebelipase alfa and what dose they are likely to have over their lifetime.
Because of the clinical uncertainties, including those related to how sebelipase alfa is used in the treatment pathway for people with Wolman disease, the cost-effectiveness estimates are also uncertain. When considering the condition's severity, and the effect of sebelipase alfa on quality and length of life, the most likely cost-effectiveness estimates are within the range NICE considers an acceptable use of NHS resources. So, sebelipase alfa is recommended.