Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project-Reference-Cited by-同舟云学术

Electronic reporting of rare endocrine conditions within a clinical network: results from the EuRRECa project

Published:2023-10-30 Issue:12 Volume:12 Page:
ISSN:2049-3614
Container-title:Endocrine Connections
language:
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Author:

Ali S R¹²^ORCID,Bryce J²,Priego-Zurita A L³,Cherenko M³,Smythe C²,de Rooij T M³,Cools M⁴⁵^ORCID,Danne T⁶,Katugampola H⁷,Dekkers O M³⁸,Hiort O⁹,Linglart A¹⁰,Netchine I¹¹,Nordenstrom A¹²,Attila P¹³,Persani L¹⁴¹⁵^ORCID,Reisch N¹⁶^ORCID,Smyth A²,Sumnik Z¹⁷,Taruscio D¹⁸,Visser W E¹⁹,Pereira A M²⁰²¹,Appelman-Dijkstra N M³,Ahmed S F¹²³^ORCID

Affiliation:

1. Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, UK

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

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

4. Department of Internal Medicine and Paediatrics, Ghent University, Belgium

5. Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium

6. Diabetes Center AUF DER BULT, Hannover, Germany

7. UCL GOS Institute of Child Health, London

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

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

10. AP-HP, Université Paris Saclay, INSERM, Bicêtre Paris Saclay Hospital, le Kremlin Bicêtre, France

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

12. Pediatric Endocrinology, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden

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

14. Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy

15. Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy

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

17. Department of Pediatrics, Motol University Hospital and 2nd Faculty of Medicine, Charles University, Prague, Czech Republic

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

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

20. Department of Endocrinology and Metabolism, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands

21. Amsterdam Gastroenterology Endocrinology and Metabolism, Amsterdam, the Netherlands

Abstract

Objective The European Registries for Rare Endocrine Conditions (EuRRECa, eurreb.eu) includes an e-reporting registry (e-REC) used to perform surveillance of conditions within the European Reference Network (ERN) for rare endocrine conditions (Endo-ERN). The aim of this study was to report the experience of e-REC over the 3.5 years since its launch in 2018. Methods Electronic reporting capturing new encounters of Endo-ERN conditions was performed monthly through a bespoke platform by clinicians registered to participate in e-REC from July 2018 to December 2021. Results The number of centres reporting on e-REC increased to a total of 61 centres from 22 countries. A median of 29 (range 11, 45) paediatric and 32 (14, 51) adult centres had reported cases monthly. A total of 9715 and 4243 new cases were reported in adults (age ≥18 years) and children, respectively. In children, sex development conditions comprised 40% of all reported conditions and transgender cases were most frequently reported, comprising 58% of sex development conditions. The median number of sex development cases reported per centre per month was 0.6 (0, 38). Amongst adults, pituitary conditions comprised 44% of reported conditions and pituitary adenomas (69% of cases) were most commonly reported. The median number of pituitary cases reported per centre per month was 4 (0.4, 33). Conclusions e-REC has gained increasing acceptability over the last 3.5 years for capturing brief information on new encounters of rare conditions and shows wide variations in the rate of presentation of these conditions to centres within a reference network. Significance statement Endocrinology includes a very wide range of rare conditions and their occurrence is often difficult to measure. By using an electronic platform that allowed monthly reporting of new clinical encounters of several rare endocrine conditions within a defined network that consisted of several reference centres in Europe, the EuRRECa project shows that a programme of e-surveillance is feasible and acceptable. The data that have been collected by the e-reporting of rare endocrine conditions (e-REC) can allow the continuous monitoring of rare conditions and may be used for clinical benchmarking, designing new studies or recruiting to clinical trials.

Publisher

Bioscientifica

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://ec.bioscientifica.com/downloadpdf/journals/ec/12/12/EC-23-0434.xml

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