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Alejandra Decanini, Julian Tokarev, Julie Eisengart, Elsa Shapiro, C Gail Summers, Paul Orchard, Jakub Tolar, Erick D, Bothun; Ocular Outcomes of Combination Enzyme Replacement Therapy with Hematopoietic Cell Transplantation in Hurler Syndrome. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):5826.
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© ARVO (1962-2015); The Authors (2016-present)
Although hematopoietic cell transplantation (HCT) is an effective treatment for mucopolysaccharidosis type I (Hurler syndrome, MPS IH), it is unclear whether the additional use of enzyme replacement therapy (ERT) for further systemic improvement affects the ocular outcome. We performed a retrospective, observational clinical study to learn about the ocular outcomes of children receiving ERT before and after HCT for Hurler syndrome, MPS IH, compared to a matched control group receiving only HCT.
This single institution, retrospective study reviewed the ophthalmologic findings of children with MPS IH who were treated with recombinant a-L iduronidase ERT for 10-14 weeks prior to and 8 weeks following transplantation (combined therapy), compared with an age and transplant matched control group that did not receive ERT. The data collected included age, vision, and ocular examination details.
Nine children in each cohort (ERT with HCT vs. HCT-only) were followed for 61.2 and 61.5 months, respectively. At last follow-up, mean best-corrected visual acuity in the ERT with HCT group was 0.45 logMAR below age-adjusted, normal acuity compared to 0.37 logMAR below age-adjusted normal acuity in the HCT group (p = 0.2650). The children in the combined therapy group performed optotype acuities at earlier ages than those undergoing only HCT (46 vs 73 months, p = 0.0041).
Visual outcomes in children with MPS 1H undergoing HCT do not appear to be better when ERT is given in conjunction with HCT when compared to a matched group receiving HCT alone. Longer follow-up with a large sample of patients may clarify the impact of ERT with HCT combination therapy for MPS IH.
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