Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.

ABSTRACT:

Purpose

Early treatment is critical for mucopolysaccharidosis type I (MPS I), justifying its incorporation into newborn screening. Enzyme replacement therapy (ERT) treats MPS I, yet presumptions that ERT cannot penetrate the blood-brain barrier (BBB) support recommendations that hematopoietic cell transplantation (HCT) treat the severe, neurodegenerative form (Hurler syndrome). Ethics precludes randomized comparison of ERT with HCT, but insight into this comparison is presented with an international cohort of patients with Hurler syndrome who received long-term ERT from a young age.

Methods

Long-term survival and neurologic outcomes were compared among three groups of patients with Hurler syndrome: 18 treated with ERT monotherapy (ERT group), 54 who underwent HCT (HCT group)

SUBMITTER: Eisengart JB 

PROVIDER: S-EPMC6129229 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature