Avalglucosidase alfa for treating Pompe disease

1.1 Avalglucosidase alfa (AVAL) is recommended, within its marketing authorisation, as an option for treating Pompe disease in babies, children, young people and adults, only if the company provides AVAL according to the commercial arrangement.

Why the committee made this recommendation

Pompe disease either occurs at birth (infantile onset; IOPD), or after 12 months (late onset; LOPD). The only treatment for Pompe disease is enzyme replacement therapy (ERT) with alglucosidase alfa (ALGLU). AVAL is an alternative ERT that works in the same way. Limited evidence shows AVAL can enter cells more easily, so reducing glycogen levels more efficiently than ALGLU. But the clinical benefit is uncertain.

In LOPD, the cost-effectiveness estimates are uncertain because of uncertainties in the clinical evidence. But they are below what NICE normally considers an acceptable use of NHS resources, so AVAL is recommended for LOPD.

Because IOPD is very rare, data is limited. So, assumptions about its efficacy were needed, which makes the cost-effectiveness estimates uncertain. When assuming that AVAL works as well as ALGLU, cost-effectiveness estimates are below what NICE normally considers an acceptable use of NHS resources. Given the high burden of Pompe disease on children and their carers, and the rarity of the condition, the committee accepted the uncertainties. So, AVAL is recommended for IOPD.