avalglucosidase alfa for treating Pompe disease

Last edited 08/2022 and last reviewed 08/2023

Avalglucosidase alfa for treating Pompe disease

Pompe disease, also known as glycogen storage disorder type 2, is an autosomal recessive metabolic disorder caused by an enzymatic deficiency of acid alpha-glucosidase (GAA) in lysosomes

• the disease was first described by J.C. Pompe, G. Bischoff, and W. Putschar-independently in the year 1932
• enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme) received approval in Europe in 2006

NICE state:

• 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 agreement

The NICE committee state:

• "..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.."

Reference:

• NICE (August 2022). Avalglucosidase alfa for treating Pompe disease
• Gutschmidt K et al.STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa. J Neurol. 2021 Jul;268(7):2482-2492