ESPE2022 Free Communications Early Life and Multisystem Endocrinology (6 abstracts)
The European Registries for Rare Endocrine Conditions (EuRRECa): the Use of a Core Registry for Collecting Common Data Elements and Clinician and Patient Reported Outcomes
Ana Luisa Priego Zurita 1 , Salma R Ali 2,3 , Jillian Bryce 3 , Martine Cools 4 , Thomas Danne 5 , Olaf M. Dekkers 1 , Olaf Hiort 6 , Harshini Katugampola 7 , Agnes Linglart 8 , Irene Netchine 9 , Anna Nordenström 10 , Attila Patócs 11 , Alberto M Pereira 1 , Luca Persani 12,13 , Nicole Reisch 14 , Arlene Smyth 3 , Zdenek Šumnik 15 , Domenica Taruscio 16 , W Edward Visser 17 , Natasha M Appelman-Dijkstra 1 & S Faisal Ahmed 1,2,3
1Leiden University Medical Centre, Department of Medicine, Division of Endocrinology, Leiden, Netherlands; 2University of Glasgow, Developmental Endocrinology Research Group, Royal Hospital For Children, Glasgow, United Kingdom; 3University of Glasgow, Office For Rare Conditions, 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; 6Division Of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University Of Lübeck, Lübeck, Germany; 7Genetics & Genomic Medicine Programme, University College London Great Ormond Street Institute of Child Health, London, United Kingdom; 8AP-HP, Department of Pediatric Endocrinology and Diabetology For Children, Le Kremlin Bicetre, France; 9Sorbonne Universite, Inserm, Centre De Recherche Sainte Antoine, APHP, Hopital Des Enfants Armand Trousseau, Paris, France; 10Pediatric Endocrinology and Inborn Errors of Metabolism, Karolinska University Hospital, S-17176, Stockholm, Sweden; 11Clinical Genetics and Endocrinology Laboratory, Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary; 12Division Of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano, 20145 Milan, Italy; 13Department of Biotechnology and Experimental Medicine, University of Milan, 20122 Milan, Italy; 14Med. Klinik Und Poliklinik Iv, Klinikum Der Universität München, Munich, Germany; 15Department of Pediatrics, Motol University Hospital, Prague, Czech Republic; 16National Centre for Rare Diseases, Istituto Superiore Di Sanità, Rome, Italy; 17Erasmus Medical Centre, Department of Internal Medicine, Academic Centre for Thyroid Diseases, Rotterdam, Netherlands
Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.
Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2019 and December 2021.
Methods: Core Registry clinical contributors are invited to register new and existing cases of endocrine conditions seen in their centres. Diseases are organized in eight main condition groups. A core data set and a condition-specific data set collect information regarding demographics and diagnosis. Generic Patient-Reported Outcome Measures (PROMs) are available for clinicians and patients to complete. Patients can access the platform, view their data and complete outcomes.
Results: Nineteen centres from 12 countries, of which 17 are based in Europe, have registered cases. Of 19, 9 are Endo-ERN members. To date, a total of 644 cases have been added to the registry, 238 (36%) in the sex development and maturation condition group, 160 (24%) in the pituitary group, 153 (23%) in the calcium and phosphate group, 51 (8%) in the adrenal group, 24 (4%) in the thyroid group, 23 (3%) in the genetic endocrine tumour syndrome group, 10 (1%) in the growth and obesity group and 5 (0.7%) in the disorders of glucose and insulin metabolism. Of 664 cases, 183 (28%) were within the age range 0-9 years, 140 (22%) within 10-17 years and 321 (51%) over 18 years. The median age was 19 (0, 88) with 341(52%) cases over the age of 18 yrs. Of 664 cases, 442 (67%) were under active follow-up. One-hundred and thirteen (17%) had expressed an interest in using the patient platform; 76 (67%) had been sent an invitation to join the platform and of these, 18 (24%) activated their account. Thirty-two EQ-5D outcomes have been completed, 28 (87%) in cases of mineral conditions and 2 (6%) in pituitary. Of these, 26 (94%) have been completed by clinicians and 2 by patients.
Conclusion: The EuRRECa Core Registry has shown its ability to collect information on a very wide range of endocrine conditions in patients of all ages. The additional functionality for collecting patient reported as well as clinician reported outcomes has now been tested and can be used for studying the natural history and long-term clinical outcomes of rare endocrine conditions.
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