The current landscape of European registries for rare endocrine conditions
Jazyk angličtina Země Velká Británie, Anglie Médium print
Typ dokumentu časopisecké články
PubMed
30407922
PubMed Central
PMC6347278
DOI
10.1530/eje-18-0861
PII: EJE-18-0861
Knihovny.cz E-zdroje
- MeSH
- lidé MeSH
- nemoci endokrinního systému * MeSH
- registrace * MeSH
- vzácné nemoci * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Evropa MeSH
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 Internal Medicine and Paediatrics Ghent University
Department of Paediatric Endocrinology Ghent University Hospital Ghent Belgium
Department of Pediatrics Motol University Hospital Prague Czech Republic
Diabetes Center AUF DER BULT Hannover Germany
Division of Endocrine and Metabolic Diseases Istituto Auxologico Italiano
Dutch Adrenal Network JH Soest 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
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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