Clinical development innovation in rare diseases: overcoming barriers to successful delivery of a randomised clinical trial in alkaptonuria—a mini-review

Orphanet Journal of Rare Diseases

Review

L. R. Ranganath¹  Nick Sireau² 

[1] Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, L7 8XP, Liverpool, UK;Department of Musculoskeletal Biology, University of Liverpool, L7 8TX, Liverpool, UK;The Alkaptonuria Society, 66 Devonshire Road, CB1 2BL, Cambridge, UK;

关键词: Alkaptonuria;    Nitisinone;    Homogentisic acid;    SONIA 2;    DevelopAKUre;    Clinical trial;    Barriers;   

DOI  :  10.1186/s13023-022-02606-0

 received in 2022-10-06, accepted in 2022-12-19,  发布年份 2022

来源: Springer

【 摘 要 】

Alkaptonuria is a rare inherited disorder for which there was no disease-modifying treatment. In order to develop a successful approved therapy of AKU multiple barriers had to be overcome. These included activities before the conduct of the study including deciding on the drug therapy, the dose of the drug to be used, clarify the nature of the disease, develop outcome measures likely to yield a positive outcome, have a strategy to ensure appropriate patient participation through identification, build a consortium of investigators, obtain regulatory approval for proposed investigation plan and secure funding. Significant barriers were overcome during the conduct of the multicentre study to ensure harmonisation. Mechanisms were put in place to recruit and retain patients in the study. Barriers to patient access following completion of the study and regulatory approval were resolved.

【 授权许可】

CC BY   
© The Author(s) 2023