PDF(Pubmed)
Abstract：
BACKGROUND: Osteogenesis imperfecta (OI) is a rare disease characterized by low bone mass and bone fragility, associated with an increased risk of fractures, and skeletal and extra-skeletal symptoms that results in an impairment of health-related quality of life of OI patients. Since published studies on OI in Spain are limited, this study aimed to determine the epidemiology, assessed the disease burden, management and unmet needs of OI patients in Spain. Thirty-four experts in the management of patients with osteogenesis imperfecta completed two rounds of online consultation and reported real-life experience and data from Spanish hospitals. Delphi study questionnaires were based on literature review. A working group of nationally recognized clinical experts supported the development of the study questionnaires and the final validation of results.
RESULTS: The estimated prevalence of patients diagnosed with OI in Spain is 0.56:10,000 inhabitants (95%CI: 0.54-0.59), which represents that, approximately, 2,669 OI patients are currently managed in Spanish hospitals. It is estimated that approximately 269 new patients would be diagnosed with OI each year in Spain, representing an estimated incidence of 0.06 (95%CI: 0.05-0.06) per 10,000 inhabitants per year. Clinical management of OI in Spain is performed by a range of medical specialists; however, multidisciplinary care is not fully implemented. The absence of an approved curative treatment or a treatment to reduce the clinical features of the disease remains the main unmet need.
CONCLUSIONS: This study provides a snapshot of the current situation of patients with OI in Spain reported by clinical experts. The results provide an estimation of the epidemiology of the disease, and complement the available evidence on disease burden, clinical management, and unmet needs of these patients in Spain.
RESULTS: The estimated prevalence of patients diagnosed with OI in Spain is 0.56:10,000 inhabitants (95%CI: 0.54-0.59), which represents that, approximately, 2,669 OI patients are currently managed in Spanish hospitals. It is estimated that approximately 269 new patients would be diagnosed with OI each year in Spain, representing an estimated incidence of 0.06 (95%CI: 0.05-0.06) per 10,000 inhabitants per year. Clinical management of OI in Spain is performed by a range of medical specialists; however, multidisciplinary care is not fully implemented. The absence of an approved curative treatment or a treatment to reduce the clinical features of the disease remains the main unmet need.
CONCLUSIONS: This study provides a snapshot of the current situation of patients with OI in Spain reported by clinical experts. The results provide an estimation of the epidemiology of the disease, and complement the available evidence on disease burden, clinical management, and unmet needs of these patients in Spain.
摘要：
背景：成骨不全症（OI）是一种罕见的疾病，以低骨量和骨脆性为特征，与骨折风险增加相关，以及导致OI患者健康相关生活质量受损的骨骼和骨骼外症状。由于西班牙已发表的关于OI的研究有限，这项研究旨在确定流行病学，评估疾病负担，西班牙OI患者的管理和未满足的需求。34位成骨不全症患者管理专家完成了两轮在线咨询，并报告了西班牙医院的真实经验和数据。德尔菲研究问卷以文献综述为基础。由国家认可的临床专家组成的工作组支持研究问卷的开发和结果的最终验证。
结果：西班牙被诊断为OI的患者的估计患病率为0.56：10,000居民（95CI：0.54-0.59），这代表了，大约,2,669名OI患者目前在西班牙医院接受治疗。据估计，西班牙每年约有269名新患者被诊断为OI，代表每年每10,000名居民的估计发病率为0.06(95CI：0.05-0.06)。在西班牙，OI的临床管理由一系列医学专家进行;然而，多学科护理没有完全实施。缺乏批准的治愈性治疗或减少疾病临床特征的治疗仍然是主要未满足的需求。
结论：这项研究提供了临床专家报告的西班牙OI患者的现状的快照。结果提供了对该疾病流行病学的估计，补充现有的疾病负担证据，临床管理，以及西班牙这些患者未满足的需求。
结果：西班牙被诊断为OI的患者的估计患病率为0.56：10,000居民（95CI：0.54-0.59），这代表了，大约,2,669名OI患者目前在西班牙医院接受治疗。据估计，西班牙每年约有269名新患者被诊断为OI，代表每年每10,000名居民的估计发病率为0.06(95CI：0.05-0.06)。在西班牙，OI的临床管理由一系列医学专家进行;然而，多学科护理没有完全实施。缺乏批准的治愈性治疗或减少疾病临床特征的治疗仍然是主要未满足的需求。
结论：这项研究提供了临床专家报告的西班牙OI患者的现状的快照。结果提供了对该疾病流行病学的估计，补充现有的疾病负担证据，临床管理，以及西班牙这些患者未满足的需求。
