Objective: To identify cross-border international registries for rare endocrine conditions that are led from Europe and understand the extent of engagement with these registries within a network of reference centres (RC) 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 RC 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 RC, the awareness and participation rate in an international registry was highest for rare diabetes at 75% and 56%, respectively. Of the 37 sex development RC, the corresponding rates were highest for disorders of sex development at 70% and 52%. Of the 33 adrenal RC, the rates were highest for adrenocortical tumours at 68% and 43%. Of the 43 pituitary RC, the rates were highest for pituitary adenomas at 43% and 29%. Of the 31 genetic tumour RC, 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.