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Clinical trials in skeletal dysplasia: A paradigm for treating rare diseases

Research output: Contribution to journalReview articlepeer-review

Ataf Sabir, Melita Irving

Original languageEnglish
Pages (from-to)16-35
Number of pages20
JournalBritish medical bulletin
Volume139
Issue number1
DOIs
Published1 Sep 2021

Bibliographical note

Publisher Copyright: © 2021 The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.

King's Authors

Abstract

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.

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