Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review.
Burton BK, Fertek D, Chin PS, Ho C, Giugliani R, van den Hout JMP, Magner M, Ezgü F, AlSayed M, Muenzer J, Okuyama T, Jones SA
Molecular genetics and metabolism, 2025 Sep 29
Abstract
All people with the rare, inherited, lysosomal disease mucopolysaccharidosis type II (MPS II) experience somatic manifestations, and approximately two-thirds develop neurological and cognitive impairment. There is a well-documented need for novel therapies that target the central nervous system, but it is also clear that, despite enzyme replacement therapy having been available since 2006, somatic manifestations continue to have a substantial impact on quality of life, morbidity, and life expectancy. We conducted a targeted literature review to characterize the unmet needs related to the diagnosis, treatment, and monitoring of the somatic aspects of MPS II.