ESPE Abstracts (2018) 89 FC14.1

Awareness and Participation in Rare Disease Registries Within the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

Salma R Alia,b, Jillian Brycea,b, Martine Coolsc, Marta Korbonitsd, Johan G Beune, Domenica Tarusciof, Felix Beuschleing, Thomas Danneh, Mehul Dattanii, Olaf Dekkersj, Agnès Linglartk, Irene Netchinel, Anna Nordenstromm, Attila Patocsn, Luca Persanio,p, Arlene Smythb, Zdenek Sumnikq, W Edward Visserr, Olaf Hiort19, Alberto M Pereirat & S Faisal Ahmeda,b


aDevelopmental Endocrinology Research Group, School of Medicine, Dentistry and Nursing, University of Glasgow, Glasgow, UK; bOffice for Rare Conditions, Royal Hospital for Children and Queen Elizabeth University Hospital, Glasgow, UK; cDepartment of Paediatric Endocrinology, Ghent University, Ghent, Belgium; dDepartment of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK; eDutch Adrenal Society, t’Harde, Netherlands; fNational Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy; gMed. Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany; hDiabetes Center AUF DER BULT, Hannover, Germany; iUCL GOS Institute of Child Health, 30 Guilford Street, London, UK; jDepartments of Internal Medicine and Clinical Epidemiology, Leiden University Medical Centre, Leiden, Netherlands; kAPHP, Bicêtre Paris Sud, le Kremlin Bicêtre, Paris, France; lAPHP, Hôpitaux Universitaires Paris Est (AP-HP) Hôpital des Enfants Armand Trousseau, Paris, France; mPediatric Endocrinology, Karolinska University Hospital, S-17176, Stockholm, Sweden; nEndocrine Genetic Laboratory, Semmelweis University, Budapest, Hungary; oDivision of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano, Milan, Italy; pDepartment of Clinical Sciences and Community Health, University of Milan, Milan, Italy; qMotol University Hospital, Prague, Czech Republic; rAcademic Centre for Thyroid Diseases, Erasmus Medical Centre, Rotterdam, Netherlands; sDivision of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany; tDepartment of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, Netherlands


Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.

Objective: To determine the extent of engagement in registries of Endo-ERN members.

Methods: Endo-ERN RC leads were invited to participate in a survey of their awareness and participation in local, national and international registries and their views on future priorities using a Likert scale of 1–5 where 5 was the greatest priority.

Results: A RC response rate of 82% was obtained. Of the 29 centres surveyed within the glucose theme, 62% reported anawareness of an international registry for rare diabetes with a 48% participation rate. A priority score of 5 was only attributed to rare diabetes. Of the 33 centres within the adrenal theme, awareness of an international registry was 61% for adrenocortical tumours (ACT) and participation was 39%. Pheochromocytoma, ACT and CAH were rated as 5. Of the 37 centres within the sex development theme, 50% reported awareness and participation was 37% for DSD; all conditions were rated as 5. Of the 43 centres within the pituitary theme, international registry awareness was 33% for pituitary adenoma whilst participation was 23%. Pituitary adenoma was the only condition rated as 5. Of the 31 centres within the rare genetic tumour theme, 19% reported an international registry awareness for MEN1 and 6% reported participation; all conditions were rated as 5. Of the 30 centres within the growth theme, international registry awareness was 17% for Prader Willi Syndrome and participation was 10%. All conditions were rated as 5. Ofthe 29 centres within the Calcium/Phosphate theme, international registry awareness was 14% for phosphate disorders and participation was 7%. Hypocalcaemia and hypophosphataemia were rated as 5. Of the 35 centres within the thyroid theme, international registry awarenessfor thyroid carcinoma was 14% and participation was 0%,with 4 of 6 conditions being rated as 5.

Conclusion: Whilst there is a clear need to develop new detailed disease registries, there is also a need to improve the awareness and signposting of existing registries. A common platform that is used by the whole endocrine community and which directs the user to high quality detailed disease registries has the potential to achieve this objective.

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