骨骼发育不良的临床试验：治疗罕见病的范例。
Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
机构信息
Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
Department of Clinical Genetics, Birmingham Women's and Children's Hospital, Mindelsohn Way, Birmingham B15 2TG, UK and University of Birmingham and Birmingham Health Partners, Edgbaston, Birmingham B152TT, UK.
出版信息
Br Med Bull. 2021 Sep 10;139(1):16-35. doi: 10.1093/bmb/ldab017.
BACKGROUND
Genetic skeletal dysplasia conditions (GSDs) account for 5% of all birth defects. Until recently, targeted treatments were only available for select few conditions; 1 however, opportunities arising from developments in molecular diagnostic technologies are now leading to unparalleled therapeutic advances. This review explores current GSD clinical trials, their challenges and the hopes for the future.
SOURCES OF DATA
A systematic literature search of relevant original articles, reviews and meta-analyses restricted to English was conducted using PubMed up to February 2020 regarding emerging GSD therapies.
AREAS OF AGREEMENT
We discuss current clinical trials for in achondroplasia, osteopetrosis, osteogenesis imperfecta, hypophosphataemic rickets, hypophosphatasia and fibrous ossificans progressiva.
AREAS OF CONTROVERSY
We explore challenges in GSD drug development from clinician input, cost-effectiveness and evidenced-based practice.
GROWING POINTS
We explore opportunities brought by earlier diagnosis, its treatment impact and the challenges of gene editing.
AREAS TIMELY FOR DEVELOPING RESEARCH
We horizon scan for future clinical trials.
背景
遗传性骨骼发育不良疾病（GSDs）占所有出生缺陷的 5%。直到最近，针对少数特定疾病才有靶向治疗方法；然而，分子诊断技术的发展带来了前所未有的治疗进展机会。本综述探讨了当前 GSD 临床试验、面临的挑战和未来的希望。
资料来源
截至 2020 年 2 月，使用 PubMed 对相关原始文章、综述和荟萃分析进行了系统的文献检索，仅检索英文文献，内容涉及新兴 GSD 治疗方法。
意见一致
我们讨论了针对软骨发育不全症、石骨症、成骨不全症、低磷血症性佝偻病、低磷酸酯酶症和纤维性骨发育不良的当前临床试验。
争议点
我们从临床医生的角度探讨了 GSD 药物开发的挑战，包括成本效益和循证实践。
研究增长点
我们探讨了早期诊断、治疗影响以及基因编辑带来的挑战所带来的机会。
需要进一步研究的领域
我们对未来临床试验进行前瞻性研究。
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