Pompe disease is a chronic, rare, genetic, progressive metabolic disease which results in severe disability and reduces life expectancy. It is caused by mutations in the gene that encodes the acid alpha glucosidase (GAA), which is needed to break down glycogen into glucose. In Pompe disease, there is reduced or no GAA activity, so lysosomal glycogen accumulates in muscle cells and causes irreversible muscle damage.
The standard treatment for late-onset Pompe disease is enzyme replacement therapy (ERT). To date, treatment has been provided using alglucosidase alfa (ALGLU) or avalglucosidase alfa (AVAL). These two treatments are now joined by CIPA plus miglustat.
NICE heard evidence from clinical trials that although the long-term effects of CIPA plus miglustat are uncertain, in the short term it seems to improve walking and breathing compared with ALGLU. CIPA plus miglustat has only been compared indirectly with AVAL. It appears to be as effective, but this is uncertain.
There has been some uncertainties around the cost effectiveness of CIPA plus miglustat but NICE has concluded that the overall health benefit for those with Pompe disease will be increased with it being available as a treatment option.
CIPA plus miglustat will become a treatment option for those who have and haven’t had ERT treatment previously. Clinicians supporting adults with late-onset Pompe disease will consider a number of factors when making a decision about the most appropriate treatment for an individual.
We worked in partnership with the Association of Glycogen Storage Diseases throughout the NICE appraisal process to ensure the experiences of adults living with late-onset Pompe disease were fully understood and taken into account.
As CIPA plus miglustat has been available through the early access to medicines scheme (EAMS), NHS England and integrated care boards (ICBs) have agreed to provide funding to implement this guidance 30 days after publication. When a NICE highly specialised technologies guidance recommends the use of a drug or treatment, or other technology, NHS Wales must usually provide funding and resources for it within two months of the publication of the final draft guidance. Northern Ireland usually follow NICE guidance; there is a separate treatment appraisal process in Scotland.
Full information on the recommendation is available on the NICE website here