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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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
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
Descripción
Sumario: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.