Savarirayan Ravi, Hoover-Fong Julie, Ozono Keiichi, Backeljauw Philippe, Cormier-Daire Valérie, DeAndrade Kristen, Ireland Penny, Irving Melita, Llerena Junior Juan, Maghnie Mohamad, Menzel Margaret, Merchant Nadia, Mohnike Klaus, Iruretagoyena Susana Noval, Okada Keita, Fredwall Svein Otto
Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
Nat Rev Endocrinol. 2025 May;21(5):314-324. doi: 10.1038/s41574-024-01074-9. Epub 2025 Jan 6.
Achondroplasia is the most common genetic form of short-limbed skeletal dysplasia (dwarfism). Clinical manifestations and complications can affect individuals across the lifespan, including the need for adaptations for activities of daily living, which can affect quality of life. Current international guidelines focus on symptomatic management, with little discussion regarding potential medication, as therapeutic options were limited at the time of their publication. Vosoritide is the first pharmacological, precision treatment for achondroplasia; it was approved for use in 2021, creating a need for vosoritide treatment guidelines to support clinicians. An international collaborative of leading experts and patient advocates was formed to develop this Consensus Statement. The group developed the guideline scope and topics during a hybrid meeting in November 2023; guideline statements were subsequently ratified via Delphi methodology using a predefined consensus threshold. These statements provide recommendations across the treatment pathway, from starting treatment with vosoritide through ongoing monitoring and evaluation, to stopping vosoritide and ongoing monitoring following cessation. These guidelines recommend a minimum set of requirements and a practical framework for professionals and health services worldwide regarding the use of vosoritide to treat infants, children and young people with achondroplasia. This Consensus Statement is a supplement to already established consensus guidelines for management and care of individuals with achondroplasia.
软骨发育不全是短肢骨骼发育异常（侏儒症）最常见的遗传形式。其临床表现和并发症会影响个体一生，包括日常生活活动需要适应性调整，这可能会影响生活质量。当前的国际指南侧重于对症治疗，对于潜在药物的讨论很少，因为在其发布时治疗选择有限。维索立肽是首个用于治疗软骨发育不全的精准药物；它于2021年获批使用，因此需要维索立肽治疗指南来支持临床医生。一个由顶尖专家和患者倡导者组成的国际合作团队成立，以制定本共识声明。该小组在2023年11月的一次混合会议上确定了指南范围和主题；随后通过德尔菲法使用预先定义的共识阈值批准了指南声明。这些声明涵盖了整个治疗过程的建议，从开始使用维索立肽治疗到持续监测和评估，再到停止使用维索立肽以及停药后的持续监测。这些指南为全球专业人员和医疗服务机构提供了一套关于使用维索立肽治疗软骨发育不全婴儿、儿童和青少年的最低要求和实用框架。本共识声明是对已确立的软骨发育不全患者管理和护理共识指南的补充。
