Center for Cardiovascular Research and Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Department of Pediatrics, College of Medicine, Ohio State University, Columbus, OH, USA.
Genet Med. 2020 Nov;22(11):1735-1742. doi: 10.1038/s41436-020-0909-z. Epub 2020 Aug 3.
Mucopolysaccharidosis, type II (MPS II, MIM 309900) is a severe lysosomal storage disease with multisystem involvement. There is one product approved by the FDA, an enzyme replacement therapy, based on a phase III trial in older, attenuated MPS II individuals. Guidance on treatment of MPS II is lacking, not only in general, but for specific clinical situations. A previous systematic evidence-based review of treatment for MPS II demonstrated insufficient strength in all data analyzed to create a definitive practice guideline based solely on published evidence. The American College of Medical Genetics and Genomics (ACMG) Therapeutics Committee conducted a Delphi study to generate an MPS II clinical practice resource of the treatment for these individuals for the genetics community, based on the evidence-based review and subsequent literature. This report describes the process, including consensus development and areas where consensus could not be obtained due to lack of quality evidence. Recommendations from the Delphi process were generated, and areas were highlighted that need further study to help guide clinical care of these individuals.
黏多糖贮积症 II 型（MPS II，MIM 309900）是一种严重的溶酶体贮积病，多系统受累。美国食品和药物管理局（FDA）批准了一种基于 III 期临床试验的酶替代疗法，用于治疗年龄较大、病情较轻的 MPS II 患者。MPS II 的治疗缺乏指导，不仅在一般情况下如此，在特定的临床情况下也是如此。之前对 MPS II 治疗的系统循证审查表明，在所有分析的数据中，基于已发表的证据，不足以制定一个明确的实践指南。美国医学遗传学与基因组学学院（ACMG）治疗委员会根据循证审查和随后的文献，对这些个体的治疗进行了黏多糖贮积症 II 型临床实践资源的德尔菲研究，为遗传学界提供了这一资源。本报告描述了这一过程，包括共识的制定，以及由于缺乏高质量证据而无法达成共识的领域。从德尔菲过程中生成了建议，并强调了需要进一步研究的领域，以帮助指导这些个体的临床护理。
