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.
The current landscape of European registries for rare endocrine conditions / S.R. Ali, J. Bryce, M. Cools, M. Korbonits, J.G. Beun, D. Taruscio, T. Danne, M. Dattani, O.M. Dekkers, A. Linglart, I. Netchine, A. Nordenstrom, A. Patocs, L. Persani, N. Reisch, A. Smyth, Z. Sumnik, W.E. Visser, O. Hiort, A.M. Pereira, S.F. Ahmed. - In: EUROPEAN JOURNAL OF ENDOCRINOLOGY. - ISSN 0804-4643. - 180:1(2019 Jan 01), pp. 89-98.
|Titolo:||The current landscape of European registries for rare endocrine conditions|
|Settore Scientifico Disciplinare:||Settore MED/13 - Endocrinologia|
|Data di pubblicazione:||1-gen-2019|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1530/EJE-18-0861|
|Appare nelle tipologie:||01 - Articolo su periodico|
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