PDF(Pubmed)
Abstract：
Achondroplasia is the most common form of skeletal dysplasia. Recent advances in therapeutic options have highlighted the need for understanding the burden and treatment landscape of the condition. This systematic literature review (SLR) aimed to identify health-related quality of life (HRQoL)/utilities, healthcare resource use (HCRU), costs, efficacy, safety and economic evaluation data in achondroplasia and to identify gaps in the research.
Searches of MEDLINE, Embase, the University of York Centre for Reviews and Dissemination (CRD), the Cochrane Library and grey literature were performed. Articles were screened against pre-specified eligibility criteria by two individuals and study quality was assessed using published checklists. Additional targeted searches were conducted to identify management guidelines.
Fifty-nine unique studies were included. Results demonstrated a substantial HRQoL and HCRU/cost-related burden of achondroplasia on affected individuals and their families throughout their lifetimes, particularly in emotional wellbeing and hospitalisation costs and resource use. Vosoritide, growth hormone (GH) and limb lengthening all conferred benefits for height or growth velocity; however, the long-term effects of GH therapy were unclear, data for vosoritide were from a limited number of studies, and limb lengthening was associated with complications. Included management guidelines varied widely in their scope, with the first global effort to standardise achondroplasia management represented by the International Achondroplasia Consensus Statement published at the end of 2021. Current evidence gaps include a lack of utility and cost-effectiveness data for achondroplasia and its treatments.
This SLR provides a comprehensive overview of the current burden and treatment landscape for achondroplasia, along with areas where evidence is lacking. This review should be updated as new evidence becomes available on emerging therapies.
Searches of MEDLINE, Embase, the University of York Centre for Reviews and Dissemination (CRD), the Cochrane Library and grey literature were performed. Articles were screened against pre-specified eligibility criteria by two individuals and study quality was assessed using published checklists. Additional targeted searches were conducted to identify management guidelines.
Fifty-nine unique studies were included. Results demonstrated a substantial HRQoL and HCRU/cost-related burden of achondroplasia on affected individuals and their families throughout their lifetimes, particularly in emotional wellbeing and hospitalisation costs and resource use. Vosoritide, growth hormone (GH) and limb lengthening all conferred benefits for height or growth velocity; however, the long-term effects of GH therapy were unclear, data for vosoritide were from a limited number of studies, and limb lengthening was associated with complications. Included management guidelines varied widely in their scope, with the first global effort to standardise achondroplasia management represented by the International Achondroplasia Consensus Statement published at the end of 2021. Current evidence gaps include a lack of utility and cost-effectiveness data for achondroplasia and its treatments.
This SLR provides a comprehensive overview of the current burden and treatment landscape for achondroplasia, along with areas where evidence is lacking. This review should be updated as new evidence becomes available on emerging therapies.
摘要：
背景：软骨发育不良是最常见的骨骼发育不良形式。治疗选择的最新进展突出了需要了解疾病的负担和治疗前景。本系统文献综述(SLR)旨在确定与健康相关的生活质量(HRQoL)/效用，医疗保健资源使用(HCCU)，成本,功效,软骨发育不全的安全性和经济评估数据，并确定研究中的差距。
方法：搜索MEDLINE，Embase,约克大学评论和传播中心（CRD），进行了Cochrane图书馆和灰色文献。由两名个体根据预先指定的资格标准筛选文章，并使用已发布的清单评估研究质量。进行了其他有针对性的搜索以确定管理指南。
结果：纳入了59项独特的研究。结果表明，在整个生命周期中，受影响的个体及其家庭的软骨发育不全的HRQoL和HCRU/成本相关负担很大，特别是在情绪健康和住院费用和资源使用方面。Vosoritide,生长激素（GH）和肢体延长都赋予了身高或生长速度的好处;然而，GH治疗的长期效果尚不清楚，vosoritide的数据来自数量有限的研究，肢体延长与并发症有关。包括的管理准则在其范围内差异很大，以2021年底发表的《国际软骨发育不全共识声明》为代表的全球首次标准化软骨发育不全管理的努力。目前的证据差距包括缺乏软骨发育不全及其治疗的效用和成本效益数据。
结论：本SLR全面概述了软骨发育不全的当前负担和治疗情况，以及缺乏证据的领域。随着新兴疗法的新证据的出现，应更新本综述。
方法：搜索MEDLINE，Embase,约克大学评论和传播中心（CRD），进行了Cochrane图书馆和灰色文献。由两名个体根据预先指定的资格标准筛选文章，并使用已发布的清单评估研究质量。进行了其他有针对性的搜索以确定管理指南。
结果：纳入了59项独特的研究。结果表明，在整个生命周期中，受影响的个体及其家庭的软骨发育不全的HRQoL和HCRU/成本相关负担很大，特别是在情绪健康和住院费用和资源使用方面。Vosoritide,生长激素（GH）和肢体延长都赋予了身高或生长速度的好处;然而，GH治疗的长期效果尚不清楚，vosoritide的数据来自数量有限的研究，肢体延长与并发症有关。包括的管理准则在其范围内差异很大，以2021年底发表的《国际软骨发育不全共识声明》为代表的全球首次标准化软骨发育不全管理的努力。目前的证据差距包括缺乏软骨发育不全及其治疗的效用和成本效益数据。
结论：本SLR全面概述了软骨发育不全的当前负担和治疗情况，以及缺乏证据的领域。随着新兴疗法的新证据的出现，应更新本综述。
