Project Lead: Sabine Geiger-Gritsch
Authors: Eva Malikova, Sabine Geiger-Gritsch, Ana Pantovic (lead author)
Publication: February 2026
Language: English (with German summary)
Lysosomal storage diseases such as Pompe disease and mucopolysaccharidoses (MPS I, II, IVA) are rare inherited metabolic disorders leading to multi-organ involvement. This systematic review assessed the long-term effectiveness and safety of enzyme replacement therapies (ERTs) currently approved for these conditions (alglucosidase alfa, avalglucosidase alfa, laronidase, idursulfase, elosulfase alfa). Due to predominantly small, uncontrolled studies, heterogeneous study designs, methodological limitations, and a lack of comparability between studies, the overall certainty of the identified evidence is very low. Consequently, a reliable and definitive assessment of long-term effectiveness and safety is currently not possible for the ERTs evaluated. The use of ERT therefore requires careful patient selection, structured monitoring and documentation with the collection of standardized endpoints, as well as predefined criteria for continuation or discontinuation of therapy.