• Ataf Sabir and Melita Irving.
• Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
• Br. Med. Bull. 2021 Sep 10; 139 (1): 16-35.

BackgroundGenetic 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 DataA 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 AgreementWe discuss current clinical trials for in achondroplasia, osteopetrosis, osteogenesis imperfecta, hypophosphataemic rickets, hypophosphatasia and fibrous ossificans progressiva.Areas Of ControversyWe explore challenges in GSD drug development from clinician input, cost-effectiveness and evidenced-based practice.Growing PointsWe explore opportunities brought by earlier diagnosis, its treatment impact and the challenges of gene editing.Areas Timely For Developing ResearchWe horizon scan for future clinical trials.© The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

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