ECE2018 Poster Presentations: Interdisciplinary Endocrinology Paediatric endocrinology (3 abstracts)
Awareness & participation in rare disease registries within the European reference network on rare endocrine conditions (Endo-ERN)
Salma R Ali 1, , Jillian Bryce 2 , Martine Cools 3 , Marta Korbonits 4 , Johan G Beun 5 , Domenica Taruscio 6 , Felix Beuschlein 7 , Thomas Danne 8 , Mehul Dattani 9 , Olaf Dekkers 10 , Agnès Linglart 11 , Irene Netchine 12 , Anna Nordenstrom 13 , Attila Patocs 14 , Luca Persani 15, , Arlene Smyth 2 , Zdenek Sumnik 17 , W Edward Visser 18 , Olaf Hiort 19 , Alberto M Pereira 20 & S Faisal Ahmed 1,
1Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK; 2Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK; 3Department of Paediatric Endocrinology, Ghent, Belgium; 4Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK; 5Dutch Adrenal Society, ’t Harde, Netherlands; 6National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy; 7Med. Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany; 8Diabetes Center AUF DER BULT, Hannover, Germany; 9UCL GOS Institute of Child Health, 30 Guilford Street, London, UK; 10Departments of Internal Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, Netherlands; 11APHP, Bicêtre Paris Sud, le Kremlin Bicêtre, Paris, France; 12APHP, Hôpitaux Universitaires Paris Est (AP-HP) Hôpital des Enfants Armand Trousseau, Paris, France; 13Pediatric Endocrinology, Karolinska University Hospital, Stockholm, Sweden; 14Endocrine Genetics Laboratory, Semmelweis University, Budapest, Hungary; 15Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano, Milan, Italy; 16Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy; 17Motol University Hospital, Prague, Czech Republic; 18Academic Centre for Thyroid Diseases, Erasmus Medical Centre, Rotterdam, Netherlands; 19Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany; 20Department 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 an awareness 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. Of the 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 awareness for 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.
Volume 56
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Endocrine Abstracts
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