{"title":"Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.","authors":"Ataf Sabir, Melita Irving","doi":"10.1093/bmb/ldab017","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Sources of data: </strong>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.</p><p><strong>Areas of agreement: </strong>We discuss current clinical trials for in achondroplasia, osteopetrosis, osteogenesis imperfecta, hypophosphataemic rickets, hypophosphatasia and fibrous ossificans progressiva.</p><p><strong>Areas of controversy: </strong>We explore challenges in GSD drug development from clinician input, cost-effectiveness and evidenced-based practice.</p><p><strong>Growing points: </strong>We explore opportunities brought by earlier diagnosis, its treatment impact and the challenges of gene editing.</p><p><strong>Areas timely for developing research: </strong>We horizon scan for future clinical trials.</p>","PeriodicalId":9280,"journal":{"name":"British medical bulletin","volume":"139 1","pages":"16-35"},"PeriodicalIF":6.7000,"publicationDate":"2021-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"British medical bulletin","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/bmb/ldab017","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 2
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.
期刊介绍：
British Medical Bulletin is a multidisciplinary publication, which comprises high quality reviews aimed at generalist physicians, junior doctors, and medical students in both developed and developing countries.
Its key aims are to provide interpretations of growing points in medicine by trusted experts in the field, and to assist practitioners in incorporating not just evidence but new conceptual ways of thinking into their practice.
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