Canary Islands Foundation for Health and Research (FUNCIS), Hospital Universitario de Gran Canaria Dr. Negrin, C/Barranco de la Ballena s/n, 35010 Las Palmas de Gran Canaria, Spain.
Health Policy. 2012 Nov;108(1):19-26. doi: 10.1016/j.healthpol.2012.08.001. Epub 2012 Sep 2.
The BURQOL-RD project is intended to develop a disease based model capable of quantifying the socio-economic burden and health-related quality of life for patients with rare diseases (RDs) and their caregivers in Europe. We described the methodology used to select a set of 10 RDs to be approached in a pilot study.
BURQOL-RD project includes 23 partners from 8 European countries: Spain, UK, France, Germany, Sweden, Italy, Hungary and Bulgaria. A two-round Delphi panels in combination with Carroll diagram was used to generate consensus in the selection of the 10 RDs among the project participants.
The two Delphi rounds yielded a prioritised list, to which the Carroll diagram was applied, taking into account three determinants: prevalence, availability of effective treatment and need for carer. The final set of RD to be studied was obtained: cystic fibrosis, Prader-Willi syndrome, haemophilia, duchenne muscular dystrophy, epidermolysis bullosa, fragile X syndrome, scleroderma, mucopolysaccharidosis, juvenile idiopathic arthritis and histiocytosis.
This methodology permitted the generation of an equilibrated set of RDs for the pilot study of BURQOL-RD project. The model will be suitable for application in a wide range of RDs.
BURQOL-RD 项目旨在开发一种基于疾病的模型，能够定量评估欧洲罕见病（RD）患者及其照护者的社会经济负担和健康相关生活质量。我们描述了用于选择一组 10 种 RD 进行试点研究的方法。
BURQOL-RD 项目包括来自 8 个欧洲国家的 23 个合作伙伴：西班牙、英国、法国、德国、瑞典、意大利、匈牙利和保加利亚。两轮德尔菲小组讨论结合卡罗尔图用于在项目参与者中就 10 种 RD 的选择达成共识。
两轮德尔菲小组讨论产生了一个优先列表，然后应用卡罗尔图，考虑到三个决定因素：患病率、有效治疗方法的可用性和对照护者的需求。最终确定了要研究的一组 RD：囊性纤维化、普拉德-威利综合征、血友病、杜氏肌营养不良症、大疱性表皮松解症、脆性 X 综合征、硬皮病、黏多糖贮积症、青少年特发性关节炎和组织细胞增生症。
该方法允许为 BURQOL-RD 项目的试点研究生成一组平衡的 RD。该模型将适用于广泛的 RD。
