Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool, L7 8XP, UK.
Department of Musculoskeletal Biology, University of Liverpool, Liverpool, L7 8TX, UK.
Orphanet J Rare Dis. 2023 Jan 4;18(1):1. doi: 10.1186/s13023-022-02606-0.
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.
尿黑酸尿症是一种罕见的遗传性疾病，目前尚无治疗方法。为了开发成功的 AKU 批准疗法，需要克服多个障碍。这些障碍包括在研究进行之前的活动，包括决定药物治疗、使用的药物剂量、明确疾病性质、开发可能产生积极结果的结果测量方法、制定确保通过鉴定适当参与患者的策略，建立一个调查人员的联合体，为拟议的调查计划获得监管批准并确保资金。在进行多中心研究以确保协调一致的过程中克服了重大障碍。已经建立了相关机制来招募和保留研究中的患者。在研究完成和监管批准后，解决了患者获得治疗的障碍。
