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. PereiraS. F. Ahmed

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)89-98
Number of pages10
JournalEuropean journal of endocrinology
Volume180
Issue number1
DOIs
Publication statusPublished - Jan 1 2019

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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    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., ... Ahmed, S. F. (2019). The current landscape of European registries for rare endocrine conditions. European journal of endocrinology, 180(1), 89-98. https://doi.org/10.1530/EJE-18-0861