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

The current landscape of European registries for rare endocrine conditions.

Author information

1
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, UK.
2
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK.
3
Department of Internal Medicine and Paediatrics, Ghent University.
4
Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium.
5
Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
6
Dutch Adrenal Network (AdrenalNET), JH Soest, the Netherlands.
7
National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
8
Diabetes Center AUF DER BULT, Hannover, Germany.
9
Genetics and Genomic Medicine Programme, UCL GOS Institute of Child Health, London, UK.
10
Departments of Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands.
11
APHP, Bicêtre Paris Sud, le Kremlin Bicêtre, France.
12
Sorbonne Université, Inserm, Centre de recherche Sainte Antoine, APHP, Hôpital des Enfants Armand Trousseau, Paris, France.
13
Pediatric Endocrinology and Inborn Errors of Metabolism, Karolinska University Hospital, Stockholm, Sweden.
14
Department of Laboratory Medicine, Clinical Genetics and Endocrinology Laboratory, Semmelweis University, Budapest, Hungary.
15
Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano.
16
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
17
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany.
18
Department of Pediatrics, Motol University Hospital, Prague, Czech Republic.
19
Erasmus Medical Centre, Department of Internal Medicine, Academic Centre for Thyroid Diseases, Rotterdam, the Netherlands.
20
Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany.
21
Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands.

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.

PMID:
30407922
PMCID:
PMC6347278
DOI:
10.1530/EJE-18-0861
[Indexed for MEDLINE]
Free PMC Article

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