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  • Author: Olaf Dekkers x
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Salma Rashid Ali, Jillian Bryce, Martine Cools, Marta Korbonits, Johan G Beun, Domenica Taruscio, Thomas Danne, Mehul Tulsidas Dattani, Olaf Dekkers, Agnès Linglart, Irene Netchine, Anna Nordenstrom, Attila Patocs, Luca Persani, Nicole Reisch, Arelene Smyth, Zdenek Sumnik, W. Edward Visser, Olaf Hiort, Alberto M Pereira and S. Faisal Ahmed

Objective: 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.

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 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%.

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.