Elsevier

Genetics in Medicine

Volume 19, Issue 11, November 2017, Pages 1187-1201
Genetics in Medicine

Systematic Review
Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review

https://doi.org/10.1038/gim.2017.30Get rights and content
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Abstract

Purpose

A pilot systematic evidence review to establish methodology utility in rare genetic diseases, support clinical recommendations, and identify important knowledge gaps.

Methods

Broad-based published/gray-literature searches through December 2015 for studies of males with confirmed mucopolysaccharidosis type II (any age, phenotype, genotype, family history) treated with enzyme replacement therapy or hematopoietic stem cell transplantation. Preset inclusion criteria employed for abstract and full document selection, and standardized methods for data extraction and assessment of quality and strength of evidence.

Results

Twelve outcomes reported included benefits of urinary glycosaminoglycan and liver/spleen volume reductions and harms of immunoglobulin G/neutralizing antibody development (moderate strength of evidence). Less clear were benefits of improved 6-minute walk tests, height, early treatment, and harms of other adverse reactions (low strength of evidence). Benefits and harms of other outcomes were unclear (insufficient strength of evidence). Current benefits and harms of hematopoietic stem cell transplantation are unclear, based on dated, low-quality studies. A critical knowledge gap is long-term outcomes. Consensus on selection of critical outcomes and measures is needed to definitively evaluate treatment safety and effectiveness.

Conclusion

Minor methodology modifications and a focus on critical evidence can reduce review time and resources. Summarized evidence was sufficient to support guidance development and highlight important knowledge gaps.

Keywords

enzyme replacement therapy
hematopoietic stem cell transplantation
Hunter syndrome
idursulfase
mucopolysaccharidosis type II
systematic evidence review

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