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.

粘多糖贮积症 II 型 (MPS II, MIM 309900) 是一种多系统受累的严重溶酶体贮积病。FDA 批准了一种产品，一种酶替代疗法，基于对老年、减毒 MPS II 个体进行的 III 期试验。不仅在一般情况下，而且针对特定的临床情况，都缺乏关于 MPS II 治疗的指导。先前对 MPS II 治疗的系统性循证审查表明，所有分析数据的强度不足以创建仅基于已发表证据的明确实践指南。美国医学遗传学和基因组学学院 (ACMG) 治疗委员会进行了一项德尔福研究，根据循证审查和随后的文献，为遗传学界的这些人生成治疗的 MPS II 临床实践资源。本报告描述了该过程，包括共识的制定和由于缺乏质量证据而无法达成共识的领域。产生了来自德尔福流程的建议，并强调了需要进一步研究以帮助指导这些人的临床护理的领域。