dc.contributor.author | Ali, SR | |
dc.contributor.author | Bryce, J | |
dc.contributor.author | Cools, M | |
dc.contributor.author | Korbonits, M | |
dc.contributor.author | Beun, JG | |
dc.contributor.author | Taruscio, D | |
dc.contributor.author | Danne, T | |
dc.contributor.author | Dattani, M | |
dc.contributor.author | Dekkers, OM | |
dc.contributor.author | Linglart, A | |
dc.contributor.author | Netchine, I | |
dc.contributor.author | Nordenstrom, A | |
dc.contributor.author | Patocs, A | |
dc.contributor.author | Persani, L | |
dc.contributor.author | Reisch, N | |
dc.contributor.author | Smythe, A | |
dc.contributor.author | Sumnik, Z | |
dc.contributor.author | Visser, WE | |
dc.contributor.author | Hiort, O | |
dc.contributor.author | Pereira, AM | |
dc.contributor.author | Ahmed, SF | |
dc.contributor.author | Endo, ERN | |
dc.date.accessioned | 2019-03-14T16:56:57Z | |
dc.date.available | 2018-11-08 | |
dc.date.available | 2019-03-14T16:56:57Z | |
dc.date.issued | 2019-01 | |
dc.identifier.citation | Ali, S R et al. “The current landscape of European registries for rare endocrine conditions” European journal of endocrinology vol. 180,1 (2018): 89-98. | en_US |
dc.identifier.issn | 0804-4643 | |
dc.identifier.uri | https://qmro.qmul.ac.uk/xmlui/handle/123456789/56229 | |
dc.description.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. | en_US |
dc.description.sponsorship | This publication is part of the project ‘777215/EuRRECa’ which has received funding from the European Union’s Health Programme (2014–2020). | en_US |
dc.format.extent | 89 - 98 | |
dc.language.iso | en | en_US |
dc.publisher | BioScientifica | en_US |
dc.relation.ispartof | EUROPEAN JOURNAL OF ENDOCRINOLOGY | |
dc.rights | Creative Commons Attribution | |
dc.rights | Attribution 3.0 United States | * |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/us/ | * |
dc.subject | cross-border international registries | en_US |
dc.subject | endocrine conditions | en_US |
dc.subject | Rare diseases | en_US |
dc.subject | rare disease registries | en_US |
dc.title | The current landscape of European registries for rare endocrine conditions | en_US |
dc.type | Article | en_US |
dc.rights.holder | 2018 The authors | |
dc.identifier.doi | 10.1530/EJE-18-0861 | |
pubs.author-url | http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000457062400006&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6a | en_US |
pubs.issue | 1 | en_US |
pubs.notes | Not known | en_US |
pubs.publication-status | Published | en_US |
pubs.volume | 180 | en_US |
rioxxterms.funder | Default funder | en_US |
rioxxterms.identifier.project | Default project | en_US |