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      The current landscape of European registries for rare endocrine conditions


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          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.


          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%.


          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%.


          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.

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          Recommendations for Improving the Quality of Rare Disease Registries

          Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new RD registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organizational and data quality.
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            The impact of the EU general data protection regulation on scientific research

            The use of personal data is critical to ensure quality and reliability in scientific research. The new Regulation [European Union (EU)] 2016/679 of 27 April 2016 on the protection of natural persons with regard to the processing of personal data and on the free movement of such data [general data protection regulation (GDPR)], repealing Directive 95/46/EC, strengthens and harmonises the rules for protecting individuals’ privacy rights and freedoms within and, under certain conditions, outside the EU territory. This new and historic legal milestone both prolongs and updates the EU acquis of the previous Data Protection Directive 95/46/EC. The GDPR fixes both general rules applying to any kind of personal data processing and specific rules applying to the processing of special categories of personal data such as health data taking place in the context of scientific research, this including clinical and translational research areas. This article aims to provide an overview of the new rules to consider where scientific projects include the processing of personal health data, genetic data or biometric data and other kinds of sensitive information whose use is strictly regulated by the GDPR in order to give the main key facts to researchers to adapt their practices and ensure compliance to the EU law to be enforced in May 2018.
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              Current models of care for disorders of sex development – results from an International survey of specialist centres

              Background To explore the current models of practice in centres delivering specialist care for children with disorders of sex development (DSD), an international survey of 124 clinicians, identified through DSDnet and the I-DSD Registry, was performed in the last quarter of 2014. Results A total of 78 (63 %) clinicians, in 75 centres, from 38 countries responded to the survey. A formal national network for managing DSD was reported to exist in 12 (32 %) countries. The paediatric specialists routinely involved in the initial evaluation of a newborn included: endocrinologist (99 %), surgeon/urologist (95 %), radiologist (93 %), neonatologist (91 %), clinical geneticist (81 %) and clinical psychologist (69 %). A team consisting of paediatric specialists in endocrinology, surgery/urology, clinical psychology, and nursing was only possible in 31 (41 %) centres. Of the 75 centres, 26 (35 %) kept only a local DSD registry and 40 (53 %) shared their data in a multicentre DSD registry. Attendance in local, national and international DSD-related educational programs was reported by 69, 78 and 84 % clinicians, respectively. Participation in audits/quality improvement exercises in DSD care was reported by 14 (19 %) centres. In addition to complex biochemistry and molecular genetic investigations, 40 clinicians (51 %) also had access to next generation sequencing. A genetic test was reported to be more preferable than biochemical tests for diagnosing 5-alpha reductase deficiency and 17-beta hydroxysteroid dehydrogenase 3 deficiency by 50 and 55 % clinicians, respectively. Conclusion DSD centres report a high level of interaction at an international level, have access to specialist staff and are increasingly relying on molecular genetics for routine diagnostics. The quality of care provided by these centres locally requires further exploration.

                Author and article information

                Eur J Endocrinol
                Eur. J. Endocrinol
                European Journal of Endocrinology
                Bioscientifica Ltd (Bristol )
                January 2019
                08 November 2018
                : 180
                : 1
                : 89-98
                [1 ]Developmental Endocrinology Research Group , School of Medicine, Dentistry & Nursing, University of Glasgow, UK
                [2 ]Office for Rare Conditions , Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
                [3 ]Department of Internal Medicine and Paediatrics , Ghent University
                [4 ]Department of Paediatric Endocrinology , Ghent University Hospital, Ghent, Belgium
                [5 ]Department of Endocrinology , William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK
                [6 ]Dutch Adrenal Network (AdrenalNET) , JH Soest, the Netherlands
                [7 ]National Centre for Rare Diseases , Istituto Superiore di Sanità, Rome, Italy
                [8 ]Diabetes Center AUF DER BULT , Hannover, Germany
                [9 ]Genetics and Genomic Medicine Programme , UCL GOS Institute of Child Health, London, UK
                [10 ]Departments of Medicine & Clinical Epidemiology , Leiden University Medical Centre, Leiden, the Netherlands
                [11 ]APHP , Bicêtre Paris Sud, le Kremlin Bicêtre, France
                [12 ]Sorbonne Université , Inserm, Centre de recherche Sainte Antoine, APHP, Hôpital des Enfants Armand Trousseau, Paris, France
                [13 ]Pediatric Endocrinology and Inborn Errors of Metabolism , Karolinska University Hospital, Stockholm, Sweden
                [14 ]Department of Laboratory Medicine , Clinical Genetics and Endocrinology Laboratory, Semmelweis University, Budapest, Hungary
                [15 ]Division of Endocrine and Metabolic Diseases , Istituto Auxologico Italiano
                [16 ]Department of Clinical Sciences and Community Health , University of Milan, Milan, Italy
                [17 ]Medizinische Klinik und Poliklinik IV , Klinikum der Universität München, Munich, Germany
                [18 ]Department of Pediatrics , Motol University Hospital, Prague, Czech Republic
                [19 ]Erasmus Medical Centre , Department of Internal Medicine, Academic Centre for Thyroid Diseases, Rotterdam, the Netherlands
                [20 ]Division of Paediatric Endocrinology and Diabetes , Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany
                [21 ]Division of Endocrinology , Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands
                Author notes
                Correspondence should be addressed to S F Ahmed; Email: Faisal.Ahmed@ 123456glasgow.ac.uk
                © 2018 The authors

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                : 26 October 2018
                : 08 November 2018
                Clinical Study

                Endocrinology & Diabetes
                Endocrinology & Diabetes


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