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The current landscape of European registries for rare endocrine conditions.

Authors :
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.
Smyth, A.
Sumnik, Z.
Visser, W. E.
Hiort, O.
Pereira, A. M.
Source :
European Journal of Endocrinology. Jan2019, Vol. 180 Issue 1, p89-98. 10p.
Publication Year :
2019

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-Con nect databases, Endo-ERN RCs were aware of 11 (41%). Of 21 registries identified by the RC, RD-Connect and Orphanet d id 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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
08044643
Volume :
180
Issue :
1
Database :
Academic Search Index
Journal :
European Journal of Endocrinology
Publication Type :
Academic Journal
Accession number :
135727891
Full Text :
https://doi.org/10.1530/EJE-18-0861