Ali, S. R. et al. (2019) The current landscape of European registries for rare endocrine conditions. European Journal of Endocrinology, 180(1), pp. 89-98. (doi: 10.1530/EJE-18-0861) (PMID:30407922) (PMCID:PMC6347278)
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Abstract
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. 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%. 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%. 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.
Item Type: | Articles |
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Additional Information: | This publication is part of the project ‘777215/EuRRECa’ which has received funding from the European Union’s Health Programme (2014–2020). |
Status: | Published |
Refereed: | Yes |
Glasgow Author(s) Enlighten ID: | Bryce, Dr Jillian and Ali, Dr Salma and Ahmed, Professor Syed Faisal |
Authors: | Ali, S. R., Bryce, J., Cools, M., Korbonits, M., Beun, J. G., Taruscio, D., Danne, T., Dattani, M. T., Dekkers, O., Linglart, A., Netchine, I., Nordenstrom, A., Patocs, A., Persani, L., Reisch, N., Smyth, A., Sumnik, Z., Visser, W. E., Hiort, O., Pereira, A. M., and Ahmed, S. F. |
College/School: | College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing |
Journal Name: | European Journal of Endocrinology |
Publisher: | BioScientifica |
ISSN: | 0804-4643 |
ISSN (Online): | 1479-683X |
Published Online: | 01 January 2019 |
Copyright Holders: | Copyright © 2018 The Authors |
First Published: | First published in European Journal of Endocrinology 180(1):89-98 |
Publisher Policy: | Reproduced under a Creative Commons License |
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