The current landscape of European registries for rare endocrine conditions.


Journal

European journal of endocrinology
ISSN: 1479-683X
Titre abrégé: Eur J Endocrinol
Pays: England
ID NLM: 9423848

Informations de publication

Date de publication:
01 Jan 2019
Historique:
received: 26 10 2018
accepted: 08 11 2018
pubmed: 9 11 2018
medline: 6 3 2019
entrez: 9 11 2018
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 30407922
doi: 10.1530/EJE-18-0861
pii: EJE-18-0861
pmc: PMC6347278
doi:
pii:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

89-98

Références

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Auteurs

S R Ali (SR)

Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, UK.
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK.

J Bryce (J)

Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK.

M Cools (M)

Department of Internal Medicine and Paediatrics, Ghent University.
Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium.

M Korbonits (M)

Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.

J G Beun (JG)

Dutch Adrenal Network (AdrenalNET), JH Soest, the Netherlands.

D Taruscio (D)

National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.

T Danne (T)

Diabetes Center AUF DER BULT, Hannover, Germany.

M Dattani (M)

Genetics and Genomic Medicine Programme, UCL GOS Institute of Child Health, London, UK.

O M Dekkers (OM)

Departments of Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands.

A Linglart (A)

APHP, Bicêtre Paris Sud, le Kremlin Bicêtre, France.

I Netchine (I)

Sorbonne Université, Inserm, Centre de recherche Sainte Antoine, APHP, Hôpital des Enfants Armand Trousseau, Paris, France.

A Nordenstrom (A)

Pediatric Endocrinology and Inborn Errors of Metabolism, Karolinska University Hospital, Stockholm, Sweden.

A Patocs (A)

Department of Laboratory Medicine, Clinical Genetics and Endocrinology Laboratory, Semmelweis University, Budapest, Hungary.

L Persani (L)

Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano.
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.

N Reisch (N)

Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany.

A Smyth (A)

Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK.

Z Sumnik (Z)

Department of Pediatrics, Motol University Hospital, Prague, Czech Republic.

W E Visser (WE)

Erasmus Medical Centre, Department of Internal Medicine, Academic Centre for Thyroid Diseases, Rotterdam, the Netherlands.

O Hiort (O)

Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany.

A M Pereira (AM)

Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands.

S F Ahmed (SF)

Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, UK.
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK.

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Classifications MeSH