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. 2019 Jan 1;180(1):89-98.
doi: 10.1530/EJE-18-0861.

The current landscape of European registries for rare endocrine conditions

S R Ali  1   2 , J Bryce  2 , M Cools  3   4 , M Korbonits  5 , J G Beun  6 , D Taruscio  7 , T Danne  8 , M Dattani  9 , O M Dekkers  10 , A Linglart  11 , I Netchine  12 , A Nordenstrom  13 , A Patocs  14 , L Persani  15   16 , N Reisch  17 , A Smyth  2 , Z Sumnik  18 , W E Visser  19 , O Hiort  20 , A M Pereira  21 , S F Ahmed  1   2
Affiliations

The current landscape of European registries for rare endocrine conditions

S R Ali et al. Eur J Endocrinol. .

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.

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Figures

Figure 1
Figure 1
Response rates for reference centres (RC) categorised according to the Main Thematic Groups (MTG). Of the 71 RC, 58 (82%) responded to the survey. The mean response rate across 8 themes was 80%. MTG1, adrenal; MTG2, calcium and phosphate; MTG3, glucose and insulin; MTG4, endocrine tumours; MTG5, growth and obesity; MTG6, pituitary; MTG7, sex development; MTG8, thyroid.
Figure 2
Figure 2
Views on future priorities categorised according to the Main Thematic Groups (MTG). A score of 5 (highest priority for need of a registry) was attributed to all conditions within MTG4, MTG5 and MTG7. MTG1, adrenal; MTG2, calcium and phosphate; MTG3, glucose and insulin; MTG4, endocrine tumours; MTG5, growth and obesity; MTG6, pituitary; MTG7, sex development; MTG8, thyroid.
Figure 3
Figure 3
International registries for rare endocrine conditions. 33 registries were identified via Endo-ERN members, Orphanet and RD-Connect.
See this image and copyright information in PMC

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