Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, UK.
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK.
Eur J Endocrinol. 2019 Jan 1;180(1):89-98. doi: 10.1530/EJE-18-0861.
Objective To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres (RCs) for rare endocrine conditions. Methods Database search of international registries and a survey of RCs in the European Reference Network for rare endocrine conditions (Endo-ERN) with an overall response rate of 82%. Results Of the 42 conditions with orphacodes currently covered within Endo-ERN, international registries exist for 32 (76%). Of 27 registries identified in the Orphanet and RD-Connect databases, Endo-ERN RCs were aware of 11 (41%). Of 21 registries identified by the RC, RD-Connect and Orphanet did not have a record of 10 (48%). Of the 29 glucose RCs, the awareness and participation rate in an international registry was highest for rare diabetes at 75 and 56% respectively. Of the 37 sex development RCs, the corresponding rates were highest for disorders of sex development at 70 and 52%. Of the 33 adrenal RCs, the rates were highest for adrenocortical tumours at 68 and 43%. Of the 43 pituitary RCs, the rates were highest for pituitary adenomas at 43 and 29%. Of the 31 genetic tumour RCs, the rates were highest for MEN1 at 26 and 9%. For the remaining conditions, awareness and participation in registries was less than 25%. Conclusion Although there is a need to develop new registries for rare endocrine conditions, there is a more immediate need to improve the awareness and participation in existing registries.
目的 确定由欧洲主导的罕见内分泌疾病跨境国际注册中心，并了解这些注册中心在罕见内分泌疾病参考中心（RC）网络中的参与程度。
方法 对欧洲罕见内分泌疾病参考网络（Endo-ERN）中的国际注册中心进行数据库搜索，并对罕见内分泌疾病 RC 进行调查，总体回复率为 82%。
结果 在 Endo-ERN 目前涵盖的 42 种孤儿药编码疾病中，有 32 种（76%）存在国际注册中心。在 Orphanet 和 RD-Connect 数据库中确定的 27 个注册中心中，Endo-ERN RC 了解 11 个（41%）。在由 RC 确定的 21 个注册中心中，RD-Connect 和 Orphanet 没有记录 10 个（48%）。在 29 个葡萄糖 RC 中，罕见糖尿病的国际注册中心的知晓率和参与率最高，分别为 75%和 56%。在 37 个性别发育 RC 中，性别发育障碍的知晓率和参与率最高，分别为 70%和 52%。在 33 个肾上腺 RC 中，肾上腺肿瘤的知晓率和参与率最高，分别为 68%和 43%。在 43 个垂体 RC 中，垂体腺瘤的知晓率和参与率最高，分别为 43%和 29%。在 31 个遗传肿瘤 RC 中，MEN1 的知晓率和参与率最高，分别为 26%和 9%。对于其他疾病，注册中心的知晓率和参与率低于 25%。
结论 尽管需要为罕见内分泌疾病开发新的注册中心，但更需要提高对现有注册中心的认识和参与。
