目的:意大利法布里病心血管登记处(IFDCR)由50个意大利中心组成,在法布里病(FD)患者的心血管表现和并发症管理方面具有特定的专业知识。IFDCR的主要目的是通过解决流行病学方面的几个知识空白来检查和改善FD患者的临床护理和预后。自然史,基因型-表型相关性,诊断,以及对这种情况的管理,特别关注心血管表现和并发症。
结果:IFDCR是一个国际性的,纵向,多中心,非干预性,观察性研究。连续2岁以上诊断为FD的患者将纳入研究。招募期由两部分组成:追溯招募期,从1981年1月到2023年12月,以及预期的入学期,从2024年1月到2031年12月。注册表收集基线和后续数据,包括注册设置,患者人口统计学,家族史,症状,临床表现,心电图,心血管成像,实验室评估,医学治疗,基因检测结果,和结果。
结论:IFDCR是一个国家,多中心,包括FD患者的注册表。它保存了患者路径和临床表现的详细和多参数数据,作为提高护理质量和进行高影响力研究的有力工具。
OBJECTIVE: The Italian Fabry Disease Cardiovascular Registry (IFDCR) comprises 50 Italian centres with specific expertise in managing cardiovascular manifestations and complications of patients with Fabry disease (FD). The primary aim of the IFDCR is to examine and improve the clinical care and outcomes of patients with FD by addressing several knowledge gaps in the epidemiology, natural history, genotype-phenotype correlations, diagnosis, and
management of this condition, with particular focus on cardiovascular manifestations and complications.
RESULTS: The IFDCR is an international, longitudinal, multicentre, non-interventional, observational study. Consecutive patients aged ≥ 2 years with a diagnosis of FD will be included in the study. The recruitment period consists of two parts: the retrospective enrolment period, from January 1981 to December 2023, and the prospective enrolment period, spanning from January 2024 to December 2031. The registry collects baseline and follow-up data, including the enrolment setting, patients\' demographics, family history, symptoms, clinical manifestations, electrocardiogram, cardiovascular imaging, laboratory assessment, medical therapy, genetic testing results, and outcomes.
CONCLUSIONS: The IFDCR is a national, multicentre, registry that includes patients with FD. It holds detailed and multiparametric data across the patient pathway and clinical manifestations, acting as a powerful tool for improving the quality of care and conducting high-impact research.