Objective

The European Registries for Rare Endocrine Conditions (EuRRECa, eurreb.eu) includes an e-reporting registry (e-REC) used to perform surveillance of conditions within the European Reference Network (ERN) for rare endocrine conditions (Endo-ERN). The aim of this study was to report the experience of e-REC over the 3.5 years since its launch in 2018.

Methods

Electronic reporting capturing new encounters of Endo-ERN conditions was performed monthly through a bespoke platform by clinicians registered to participate in e-REC from July 2018 to December 2021.

Results

The number of centres reporting on e-REC increased to a total of 61 centres from 22 countries. A median of 29 (range 11, 45) paediatric and 32 (14, 51) adult centres had reported cases monthly. A total of 9715 and 4243 new cases were reported in adults (age ≥18 years) and children, respectively. In children, sex development conditions comprised 40% of all reported conditions and transgender cases were most frequently reported, comprising 58% of sex development conditions. The median number of sex development cases reported per centre per month was 0.6 (0, 38). Amongst adults, pituitary conditions comprised 44% of reported conditions and pituitary adenomas (69% of cases) were most commonly reported. The median number of pituitary cases reported per centre per month was 4 (0.4, 33).

Conclusions

e-REC has gained increasing acceptability over the last 3.5 years for capturing brief information on new encounters of rare conditions and shows wide variations in the rate of presentation of these conditions to centres within a reference network.

Significance statement

Endocrinology includes a very wide range of rare conditions and their occurrence is often difficult to measure. By using an electronic platform that allowed monthly reporting of new clinical encounters of several rare endocrine conditions within a defined network that consisted of several reference centres in Europe, the EuRRECa project shows that a programme of e-surveillance is feasible and acceptable. The data that have been collected by the e-reporting of rare endocrine conditions (e-REC) can allow the continuous monitoring of rare conditions and may be used for clinical benchmarking, designing new studies or recruiting to clinical trials.

客观的

欧洲罕见内分泌疾病登记处（EuRRECa、eurreb.eu）包括一个电子报告登记处（e-REC），用于对欧洲参考网络（ERN）内罕见内分泌疾病（Endo-ERN）的情况进行监测。本研究的目的是报告 e-REC 自 2018 年推出以来 3.5 年来的经验。

方法

2018 年 7 月至 2021 年 12 月期间注册参加 e-REC 的临床医生每月通过定制平台进行电子报告，记录新遇到的 Endo-ERN 病症。

结果

报告 e-REC 的中心数量增加至来自 22 个国家的 61 个中心。平均有 29 个（范围 11, 45）儿科中心和 32 个（范围 14, 51）成人中心每月报告病例。成人（年龄≥18岁）和儿童分别报告了9715例和4243例新​​病例。在儿童中，性发育状况占所有报告状况的 40%，最常报告的是跨性别病例，占性发育状况的 58%。每个中心每月报告的性发育病例中位数为 0.6 (0, 38)。在成人中，垂体疾病占所报告疾病的 44%，最常报告的是垂体腺瘤（占病例的 69%）。每个中心每月报告的垂体病例中位数为 4 (0.4, 33)。

结论

在过去 3.5 年里，e-REC 在捕获新遇到的罕见病症的简要信息方面获得了越来越多的认可，并且显示出向参考网络内的中心报告这些病症的比率存在很大差异。

意义陈述

内分泌学包括非常广泛的罕见病症，并且它们的发生通常难以测量。通过使用电子平台，EuRRECa 项目允许在由欧洲多个参考中心组成的既定网络内每月报告几种罕见内分泌疾病的新临床病例，表明电子监测计划是可行且可接受的。通过罕见内分泌疾病电子报告 (e-REC) 收集的数据可以对罕见疾病进行持续监测，并可用于临床基准测试、设计新研究或招募临床试验。