Objective To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres (RCs) for rare endocrine conditions. Methods Database search of international registries and a survey of RCs in the European Reference Network for rare endocrine conditions (Endo-ERN) with an overall response rate of 82%. Results Of the 42 conditions with orphacodes currently covered within Endo-ERN, international registries exist for 32 (76%). Of 27 registries identified in the Orphanet and RD-Connect databases, Endo-ERN RCs were aware of 11 (41%). Of 21 registries identified by the RC, RD-Connect and Orphanet did not have a record of 10 (48%). Of the 29 glucose RCs, the awareness and participation rate in an international registry was highest for rare diabetes at 75 and 56% respectively. Of the 37 sex development RCs, the corresponding rates were highest for disorders of sex development at 70 and 52%. Of the 33 adrenal RCs, the rates were highest for adrenocortical tumours at 68 and 43%. Of the 43 pituitary RCs, the rates were highest for pituitary adenomas at 43 and 29%. Of the 31 genetic tumour RCs, the rates were highest for MEN1 at 26 and 9%. For the remaining conditions, awareness and participation in registries was less than 25%. Conclusion Although there is a need to develop new registries for rare endocrine conditions, there is a more immediate need to improve the awareness and participation in existing registries.

APHP Bicêtre Paris Sud le Kremlin Bicêtre France

Department of Clinical Sciences and Community Health University of Milan Milan Italy

Department of Endocrinology William Harvey Research Institute Barts and the London School of Medicine Queen Mary University of London London UK

Department of Internal Medicine and Paediatrics Ghent University

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

Department of Paediatric Endocrinology Ghent University Hospital Ghent Belgium

Department of Pediatrics Motol University Hospital Prague Czech Republic

Departments of Medicine and Clinical Epidemiology Leiden University Medical Centre Leiden the Netherlands

Developmental Endocrinology Research Group School of Medicine Dentistry and Nursing University of Glasgow UK

Diabetes Center AUF DER BULT Hannover Germany

Division of Endocrine and Metabolic Diseases Istituto Auxologico Italiano

Division of Endocrinology Department of Medicine Leiden University Medical Center Leiden the Netherlands

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

Dutch Adrenal Network JH Soest the Netherlands

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

Genetics and Genomic Medicine Programme UCL GOS Institute of Child Health London UK

Medizinische Klinik und Poliklinik 4 Klinikum der Universität München Munich Germany

National Centre for Rare Diseases Istituto Superiore di Sanità Rome Italy

Office for Rare Conditions Royal Hospital for Children and Queen Elizabeth University Hospital Glasgow UK

Pediatric Endocrinology and Inborn Errors of Metabolism Karolinska University Hospital Stockholm Sweden

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

See more in PubMed

Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, Landais P, Posada M, Stefanov R, Steinmueller C. et al National registries of rare diseases in Europe: an overview of the current situation and experiences. Public Health Genomics 2015. 18 20–25. (10.1159/000365897) PubMed DOI

Baldovino S, Moliner AM, Taruscio D, Daina Em Roccatello D. Rare diseases in Europe: from a wide to a local perspective. Israel Medical Association Journal 2016. 18 359–363. PubMed

Taruscio D, Mollo E, Gianotti S, Posada de la Paz M, Bianchi F, Vittozzi L. The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration. Archives of Public Health 2014. 72 35 (10.1186/2049-3258-72-35) PubMed DOI PMC

Gianotti S, Torreri P, Wang CM, Reihs R, Mueller H, Heslop E, Roos M, Badowska DM, dePailis F, Kodra Y. et al The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers. European Journal of Medical Genetics 2018. 26 631–643. (10.1038/s41431-017-0085-z) PubMed DOI PMC

Moliner AM. Creating a European Union framework for actions in the field of rare diseases. Advances in Experimental Medicine and Biology 2010. 686 457–473. (10.1007/978-90-481-9485-8_25) PubMed DOI

Azzopardi-Muscat N, Brand H. Will European Reference Networks herald a new era of care for patients with rare and complex diseases? European Journal of Public Health 2015. 25 362–363. (10.1093/eurpub/cku144) PubMed DOI

Brooke EM. The Current and Future Use of Registers in Health Information Systems. Geneva: World Health Organisation, 1974. Publication No. 8.

Krisane ID, Verkauskiene R, Petruzelkova L, Gerasimidi-Vazeou A, Ribeiro R, O’Riordan SMP, Limbert C, Bratina N, Campagnoli M, Birkebaek NH. et al A description of clinician reported diagnosis of type 2 diabetes and other non-type 1 diabetes included in a large international multicentered pediatric diabetes registry (SWEET). Pediatric Diabetes 2016. 17 (Supplement 23) 24–31. (10.1111/pedi.12426) PubMed DOI

Kyriakou A, Dessens A, Bryce J, Lotova V, Juul A, Krawczynski M, Nordenskjold A, Rozas M, Sanders C, Hiort O. et al Current models of care for disorders of sex development – results from an international survey of specialist centres. Orphanet Journal of Rare Diseases 2016. 11 155 (10.1186/s13023-016-0534-8) PubMed DOI PMC

Kodra Y, Posada de la Paz M, Coi A, Santoro M, Bianchi F, Ahmed F, Rubinstein YR, Weinbach J, Taruscio D. Data quality in rare diseases registries. Advances in Experimental Medicine and Biology 2017. 1031 149–164. (10.1007/978-3-319-67144-4_8) PubMed DOI

Coi A, Santoro M, Villaverde-Hueso A, Lipucci Di Paola M, Gainotti S, Taruscio D, Posada de la Paz M, Bianchi F. The quality of rare disease registries: evaluation and characterization. Public Health Genomics 2016. 19 108–115. (10.1159/000444476) PubMed DOI

Kourime M, Bryce J, Jiang J, Nixon R, Ahmed SF. An assessment of the quality of the I-DSD and the I-CAH registries- international registries for rare conditions affecting sex development. Orphanet Journal of Rare Diseases 2017. 12 56 (10.1186/s13023-017-0603-7) PubMed DOI PMC

Kodra Y, Weinback J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckvort D, Roos M, Jacobson A, Cornet R, Ahmed SF. et al Recommendations for improving the quality of rare disease registries. International Journal of Environmental Research and Public Health 2018. 15 1644 (10.3390/ijerph15081644) PubMed DOI PMC

Chassang G. The impact of the EU general data protection regulation on scientific research. Ecancermedicalscience 2017. 11 709 (10.3332/ecancer.2017.709) PubMed DOI PMC

Kourime M, Ahmed SF. Virtual networks for exchanging information and biomaterials: future directions. Sexual Development 2018. 12 140–144. (10.1159/000486872) PubMed DOI

Starting point for benchmarking outcomes and reporting of pituitary adenoma surgery within the European Reference Network on Rare Endocrine Conditions (Endo-ERN): results from a meta-analysis and survey study