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The current landscape of European registries for rare endocrine conditions
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 re...
Autores principales: | , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347278/ https://www.ncbi.nlm.nih.gov/pubmed/30407922 http://dx.doi.org/10.1530/EJE-18-0861 |
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author | 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 Ahmed, S F |
author_facet | 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 Ahmed, S F |
author_sort | Ali, S R |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6347278 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Bioscientifica Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-63472782019-01-30 The current landscape of European registries for rare endocrine conditions 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 Ahmed, S F Eur J Endocrinol Clinical Study 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. Bioscientifica Ltd 2018-11-08 /pmc/articles/PMC6347278/ /pubmed/30407922 http://dx.doi.org/10.1530/EJE-18-0861 Text en © 2018 The authors http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Clinical Study 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 Ahmed, S F The current landscape of European registries for rare endocrine conditions |
title | The current landscape of European registries for rare endocrine conditions |
title_full | The current landscape of European registries for rare endocrine conditions |
title_fullStr | The current landscape of European registries for rare endocrine conditions |
title_full_unstemmed | The current landscape of European registries for rare endocrine conditions |
title_short | The current landscape of European registries for rare endocrine conditions |
title_sort | current landscape of european registries for rare endocrine conditions |
topic | Clinical Study |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347278/ https://www.ncbi.nlm.nih.gov/pubmed/30407922 http://dx.doi.org/10.1530/EJE-18-0861 |
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