The current landscape of European registries for rare endocrine conditions

Ali, S. R.; Bryce, J.; Cools, M.; Korbonits, M.; Beun, J. G.; Taruscio, D.; Danne, T.; Dattani, M.; Dekkers, O. M.; Linglart, A.; Netchine, I; Nordenstrom, A.; Patocs, A.; Persani, L.; Reisch, N.; Smythe, A.; Sumnik, Z.; Visser, W. E.; Hiort, O.; Pereira, A. M. und Ahmed, S. F. (2019): The current landscape of European registries for rare endocrine conditions. In: European Journal of Endocrinology, Bd. 180, Nr. 1: S. 89-98

Abstract

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.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0804-4643
• Sprache: Englisch