ESPE Abstracts (2019) 92 RFC3.1

European Registries For Rare Endocrine Conditions (EuRRECa): Results From The Pilot Phase Of The Platform For e-Reporting Of Rare Endocrine Conditions (e-REC)

Salma Ali1,2, Jillian Bryce1,2, Tom Muir3, Akanimo Okure1, Martine Cools4, Thomas Danne5, Mehul Dattani6, Olaf Dekkers7, Olaf Hiort8, Agnès Linglart9, Irène Netchine10, Anna Nordenström11, Attila Patócs12, Alberto Pereira13, Luca Persani14,15, Nicole Reisch16, Arlene Smyth2, Zdeněk Šumnik17, Domenica Taruscio18, W. Edward Visser19, S.Faisal Ahmed1,2


1Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom. 2Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, United Kingdom. 3MVLS College IT Services, University of Glasgow,, Glasgow, United Kingdom. 4Department of Internal Medicine and Paediatrics, Ghent University, Belgium, Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium. 5Diabetes Center AUF DER BULT, Hannover, Germany. 6Genetics and Genomic Medicine Programme, UCL GOS Institute of Child Health, 30 Guilford Street, London, United Kingdom. 7Departments of Medicine & Clinical Epidemiology, Leiden University Medical Centre,, Leiden, Netherlands. 8Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lubeck, Germany. 9APHP, Bicêtre Paris Sud, le Kremlin Bicêtre, Paris, France. 10Sorbonne Université, Inserm, Centre de recherche Sainte Antoine, APHP, Hôpital des Enfants Armand Trousseau, Paris, France. 11Pediatric Endocrinology and Inborn Errors of Metabolism, Karolinska University Hospital, S-17176, Stockholm, Sweden. 12Clinical Genetics and Endocrinology Laboratory, Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary. 13Dept of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, Netherlands. 14Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano, Milan, Italy. 15Dept of Clinical Sciences and Community Health, University of Milan, Milan, Italy. 16Med. Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany. 17Department of Pediatrics, Motol University Hospital, Prague, Czech Republic. 18National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy. 19Erasmus Medical Centre, Department of Internal Medicine, Academic Centre for Thyroid Diseases, Rotterdam, Netherlands


Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).

Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC from July 2018 to December 2018. An electronic reporting 'card' developed through Redcap was issued monthly to enquire whether clinicians had encountered a new case of any conditions within the eight Endo-ERN main thematic groups (MTGs).

Results: 23 centres were invited to report on paediatric cases and 24 centres were invited to report on adult cases. Of these, a median of 15 (range 12, 16) paediatric centres and 13 (12, 14) adult centres actively reported cases and a median of 44 (27, 75) paediatric cases and 83 (42, 120) adult cases were reported on a monthly basis. Amongst paediatric cases, conditions within the Sex Development, Thyroid and Pituitary MTGs were most commonly reported comprising 41%, 15% and 12% of all reported conditions, respectively. Amongst adult cases, conditions within Pituitary, Thyroid and Adrenal MTGs were most commonly reported, making up 41%, 19% and 10% of conditions, respectively. In children, the median number of cases reported per centre over a 6-month period was 17 (9, 32) for conditions affecting Sex Development, 6 (3, 11) for Thyroid disorders and 5 (3, 9) for Pituitary disorders. In adults, for the most commonly reported conditions, the median number of cases reported per centre were 35 (16, 44), 16 (5, 24) and 8 (1, 22) for Pituitary, Thyroid and Adrenal MTGs respectively.

Conclusion: The e-REC platform can be used to capture information on new encounters with patients with rare endocrine conditions. Results from the pilot phase of e-REC show a wide variability in the number of patients with specific groups of rare conditions that are encountered in the paediatric and adult settings and following the pilot phase, the platform has now been launched for general use. It is anticipated that the outputs from this project will be of interest to a wide range of stakeholders.

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