European lipodystrophy registry: background and structure
Abstract Background Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy subform, research in this area is di...
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2020-01-01
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Series: | Orphanet Journal of Rare Diseases |
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Online Access: | https://doi.org/10.1186/s13023-020-1295-y |
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Article |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Julia von Schnurbein Claire Adams Baris Akinci Giovanni Ceccarini Maria Rosaria D’Apice Alessandra Gambineri Raoul C. M. Hennekam Isabelle Jeru Giovanna Lattanzi Konstanze Miehle Gabriele Nagel Giuseppe Novelli Ferruccio Santini Ermelinda Santos Silva David B. Savage Paolo Sbraccia Jannik Schaaf Ekaterina Sorkina George Tanteles Marie-Christine Vantyghem Camille Vatier Corinne Vigouroux Elena Vorona David Araújo-Vilar Martin Wabitsch |
spellingShingle |
Julia von Schnurbein Claire Adams Baris Akinci Giovanni Ceccarini Maria Rosaria D’Apice Alessandra Gambineri Raoul C. M. Hennekam Isabelle Jeru Giovanna Lattanzi Konstanze Miehle Gabriele Nagel Giuseppe Novelli Ferruccio Santini Ermelinda Santos Silva David B. Savage Paolo Sbraccia Jannik Schaaf Ekaterina Sorkina George Tanteles Marie-Christine Vantyghem Camille Vatier Corinne Vigouroux Elena Vorona David Araújo-Vilar Martin Wabitsch European lipodystrophy registry: background and structure Orphanet Journal of Rare Diseases Lipodystrophy Registry Rare diseases Adipose tissue |
author_facet |
Julia von Schnurbein Claire Adams Baris Akinci Giovanni Ceccarini Maria Rosaria D’Apice Alessandra Gambineri Raoul C. M. Hennekam Isabelle Jeru Giovanna Lattanzi Konstanze Miehle Gabriele Nagel Giuseppe Novelli Ferruccio Santini Ermelinda Santos Silva David B. Savage Paolo Sbraccia Jannik Schaaf Ekaterina Sorkina George Tanteles Marie-Christine Vantyghem Camille Vatier Corinne Vigouroux Elena Vorona David Araújo-Vilar Martin Wabitsch |
author_sort |
Julia von Schnurbein |
title |
European lipodystrophy registry: background and structure |
title_short |
European lipodystrophy registry: background and structure |
title_full |
European lipodystrophy registry: background and structure |
title_fullStr |
European lipodystrophy registry: background and structure |
title_full_unstemmed |
European lipodystrophy registry: background and structure |
title_sort |
european lipodystrophy registry: background and structure |
publisher |
BMC |
series |
Orphanet Journal of Rare Diseases |
issn |
1750-1172 |
publishDate |
2020-01-01 |
description |
Abstract Background Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy subform, research in this area is difficult and international co-operation mandatory. Therefore, in 2016, the European Consortium of Lipodystrophies (ECLip) decided to create a registry for patients with lipodystrophy. Results The registry was build using the information technology Open Source Registry System for Rare Diseases in the EU (OSSE), an open-source software and toolbox. Lipodystrophy specific data forms were developed based on current knowledge of typical signs and symptoms of lipodystrophy. The platform complies with the new General Data Protection Regulation (EU) 2016/679 by ensuring patient pseudonymization, informational separation of powers, secure data storage and security of communication, user authentication, person specific access to data, and recording of access granted to any data. Inclusion criteria are all patients with any form of lipodystrophy (with the exception of HIV-associated lipodystrophy). So far 246 patients from nine centres (Amsterdam, Bologna, Izmir, Leipzig, Münster, Moscow, Pisa, Santiago de Compostela, Ulm) have been recruited. With the help from the six centres on the brink of recruitment (Cambridge, Lille, Nicosia, Paris, Porto, Rome) this number is expected to double within the next one or 2 years. Conclusions A European registry for all patients with lipodystrophy will provide a platform for improved research in the area of lipodystrophy. All physicians from Europe and neighbouring countries caring for patients with lipodystrophy are invited to participate in the ECLip Registry. Study registration ClinicalTrials.gov (NCT03553420). Registered 14 March 2018, retrospectively registered. |
topic |
Lipodystrophy Registry Rare diseases Adipose tissue |
url |
https://doi.org/10.1186/s13023-020-1295-y |
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doaj-ad91856d129d4197a99f9320d48d27e92021-01-17T12:10:15ZengBMCOrphanet Journal of Rare Diseases1750-11722020-01-0115111110.1186/s13023-020-1295-yEuropean lipodystrophy registry: background and structureJulia von Schnurbein0Claire Adams1Baris Akinci2Giovanni Ceccarini3Maria Rosaria D’Apice4Alessandra Gambineri5Raoul C. M. Hennekam6Isabelle Jeru7Giovanna Lattanzi8Konstanze Miehle9Gabriele Nagel10Giuseppe Novelli11Ferruccio Santini12Ermelinda Santos Silva13David B. Savage14Paolo Sbraccia15Jannik Schaaf16Ekaterina Sorkina17George Tanteles18Marie-Christine Vantyghem19Camille Vatier20Corinne Vigouroux21Elena Vorona22David Araújo-Vilar23Martin Wabitsch24Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Centre for Rare Endocrine Disorders, Ulm University Medical CentreUniversity of Cambridge Metabolic Research LaboratoriesDokuz Eylul University School of MedicineObesity and Lipodystrophy Center, Endocrine Unit, University Hospital of PisaMedical Genetics Laboratory, Policlinico Tor VergataEndocrinology Unit, Department of Clinical and Medical Science, S. Orsola-Malpighi Hospital, University of BolognaDepartment of Paediatrics, Amsterdam University Medical CentreInserm U938, AP-HP, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Departments of Endocrinology, Diabetology and Reproductive Endocrinology, and Molecular Biology and Genetics, Sorbonne University, Saint-Antoine University HospitalCNR Institute of Molecular Genetics “Luigi Luca Cavalli-Sforza”, Unit of BolognaMedical Department III – Endocrinology, Nephrology, Rheumatology, University of LeipzigInstitute of Epidemiology and Medical Biometry, Ulm UniversityDepartment of Biomedicine and Prevention, University of Rome Tor Vergata - Policlinico Tor VergataObesity and Lipodystrophy Center, Endocrine Unit, University Hospital of PisaPediatric Gastroenterology Unit, Pediatrics Division, Centro Materno Infantil do Norte (CMIN), Centro Hospitalar Universitário do PortoUniversity of Cambridge Metabolic Research LaboratoriesInternal Medicine Unit and Obesity Center, Department of Systems Medicine, University of Rome Tor VergataMedical Informatics Group, University Hospital FrankfurtEndocrinology Research CentreClinical Genetics Clinic, Cyprus Institute of Neurology & GeneticsCHU Lille, Department of Endocrinology, Diabetology and Metabolism, Inserm, Translational Research for Diabetes, UMR-1190, European Genomic Institute for Diabetes, University of LilleInserm U938, AP-HP, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Departments of Endocrinology, Diabetology and Reproductive Endocrinology, and Molecular Biology and Genetics, Sorbonne University, Saint-Antoine University HospitalInserm U938, AP-HP, National Reference Center for Rare Diseases of Insulin Secretion and Insulin Sensitivity (PRISIS), Departments of Endocrinology, Diabetology and Reproductive Endocrinology, and Molecular Biology and Genetics, Sorbonne University, Saint-Antoine University HospitalDivision of Endocrinology, Diabetology and Nutritional Medicine, Department of Medicine B of Gastroenterology and Hepatology, University Clinics of MünsterThyroid and Metabolic Diseases Unit, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS)-IDIS, School of Medicine, Universidade de Santiago de CompostelaDivision of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Centre for Rare Endocrine Disorders, Ulm University Medical CentreAbstract Background Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy subform, research in this area is difficult and international co-operation mandatory. Therefore, in 2016, the European Consortium of Lipodystrophies (ECLip) decided to create a registry for patients with lipodystrophy. Results The registry was build using the information technology Open Source Registry System for Rare Diseases in the EU (OSSE), an open-source software and toolbox. Lipodystrophy specific data forms were developed based on current knowledge of typical signs and symptoms of lipodystrophy. The platform complies with the new General Data Protection Regulation (EU) 2016/679 by ensuring patient pseudonymization, informational separation of powers, secure data storage and security of communication, user authentication, person specific access to data, and recording of access granted to any data. Inclusion criteria are all patients with any form of lipodystrophy (with the exception of HIV-associated lipodystrophy). So far 246 patients from nine centres (Amsterdam, Bologna, Izmir, Leipzig, Münster, Moscow, Pisa, Santiago de Compostela, Ulm) have been recruited. With the help from the six centres on the brink of recruitment (Cambridge, Lille, Nicosia, Paris, Porto, Rome) this number is expected to double within the next one or 2 years. Conclusions A European registry for all patients with lipodystrophy will provide a platform for improved research in the area of lipodystrophy. All physicians from Europe and neighbouring countries caring for patients with lipodystrophy are invited to participate in the ECLip Registry. Study registration ClinicalTrials.gov (NCT03553420). Registered 14 March 2018, retrospectively registered.https://doi.org/10.1186/s13023-020-1295-yLipodystrophyRegistryRare diseasesAdipose tissue |