ECLip Registry: Registry for Patients With Lipodystrophy
Study Details
Study Description
Brief Summary
Given the lack of knowledge on lipodystrophies, the medical and social responsibility for the persons affected by it calls for the monitoring of the progression over long periods of time. Sensible clinical and basic research into rare diseases such as lipodystrophy is only possible in multi-location networks with sufficient case numbers. Also, reliable information on the incidence of certain manifestation patterns, health status, etc. is of utmost importance for health care and health policy in this rare disease.
Therefore, the European Consortium of Lipodystrophies (ECLip), an association of European experts on lipodystrophy, has launched a registry (OSSE) for lipodystrophies which is committed to help to improve the research conditions by consolidating this kind of information in a registry.
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Detailed Description
As lipodystrophies are rare diseases subdivided into yet rarer sub-groups, research in this field requires international co-operation.
The European Consortium of Lipodystrophy (ECLip) consists of an association of European experts in the field of lipodystrophy. It has set up a Registry Board to implement a registry for patients with lipodystrophy using the Open Source Software OSSE (Open Source Registry System for Rare Diseases in the EU), which is a web based platform focused on a federated approach that allows to perform distributed searches which are designed to comply data protection requirements and preserve data sovereignty. To ensure data protection, medical and identifying data will be stored on two different servers both run by the Institute for Epidemiology and Medical Biometry of the University of Ulm.
Medical centers from all over the world where patients are treated with lipodystrophy are invited to join the ECLip Registry and to become ECLip Registry members. Upon registration, they can enter patient data after they have obtained local ethic committee permission and the patient in question has given written consent to this. Data entry is done at the individual locations via a web-based user interface. Identifying data are recorded directly into the identity management system. Communication between the identity management and the OSSE registry happens via a web browser.
The aim of the patient registry is to compile data on the natural history of each different sub-group of lipodystrophies, their comorbidities, treatment options used and medical and quality of life out-come for the patients. For this, the following data retrieved from regular patient visits are collected:
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Precise diagnosis including moleculargenetic results
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Clinical presentation and comorbidities
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Laboratory changes and results of diagnostic procedures
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Natural course of the disease including age at onset of disease and comorbidities
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Family history
Research within this registry can be performed by participating clinicians/researchers and third parties after a research proposal has be accepted by the responsible committee of the ECLip. The registry aims to answer the following questions
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new insights into the pathophysiology of lipodystrophy
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improve therapeutic options for the patients
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compile information material for patients, families and relevant professionals
Study Design
Outcome Measures
Primary Outcome Measures
- Age at death [after 20 years]
patients are followed regularly, age at death (years) will be documented
Secondary Outcome Measures
- change in somatic comorbidities under standard treatment [yearly for 50 years]
standardized physical examination, laboratory and instrument based tests
- genotype-phenotype correlation for patients with familial lipodystrophy [every 5 years for 50 years]
molecular genetic results will be compared to results from standardized physical examination, laboratory and instrument based tests
- age at onset of metabolic complications [yearly for 50 years]
metabolic complications will be assessed via standardized physical examination, laboratory and instrument based tests
- age at onset orthopedic complications [yearly for 50 years]
orthopedic complications will be assessed via standardized physical examination, laboratory and instrument based tests
- age at onset neuromuscular complications [yearly for 50 years]
neuromuscular complications will be assessed via standardized physical examination, laboratory and instrument based tests
Eligibility Criteria
Criteria
Inclusion Criteria:
- lipodystrophy
Exclusion Criteria:
- lipodystrophy due to anti-retroviral drugs
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Medical University of Vienna | Vienna | Austria | ||
| 2 | Cyprus Institute of Neurology & Genetics | Nicosia | Cyprus | ||
| 3 | Lille University | Lille | France | ||
| 4 | Children's hospital la Timone | Marseille | France | ||
| 5 | Pierre et Marie Curie School of Medicine, Sorbonne University | Paris | France | ||
| 6 | Institute of Human Genetics, Martin Luther University Halle-Wittenberg | Halle | Germany | ||
| 7 | Department of Internal Medicine (Endocrinology and Nephrology), University of Leipzig | Leipzig | Germany | ||
| 8 | Med. Klinik B für Gastroenterologie und Hepatologie, Universitätsklinikum Münster | Münster | Germany | 48149 | |
| 9 | Dept for Pediatrics and Adolescent Medicine, University of Ulm: Interdisciplinary obesity clinic | Ulm | Germany | 89075 | |
| 10 | University of Szeged, Department of Internal Medicine | Budapest | Hungary | ||
| 11 | Endocrinology Unit, Department of Clinical and Medical science, S. Orsola-Malpighi Hospital , University of Bologna | Bologna | Italy | ||
| 12 | Universita del piemonte Orientale | Novara | Italy | ||
| 13 | Endocrine Unit of University Hospital of Pisa | Pisa | Italy | ||
| 14 | Tor Vergata University - Policlinico of Tor Vergata | Roma | Italy | ||
| 15 | Academic Medical Center, University of Amsterdam | Amsterdam | Netherlands | ||
| 16 | Jagiellonian University | Kraków | Poland | ||
| 17 | Abel Salazar Biomedical Sciences Institute - University of Porto | Porto | Portugal | ||
| 18 | Centro Hospitalar de São João | Porto | Portugal | ||
| 19 | Endocrinology Research Centre | Moscow | Russian Federation | ||
| 20 | University Medical Center Ljubljana - Clinical Institute of Medical Genetics | Ljubljana | Slovenia | ||
| 21 | Santiago de Compostela University | Santiago de Compostela | Spain | ||
| 22 | Dokuz Eylul University School of Medicine | İzmir | Turkey | ||
| 23 | University of Cambridge Metabolic Research Laboratories | Cambridge | United Kingdom |
Sponsors and Collaborators
- University of Ulm
- Sorbonne University
- University Hospital, Lille
- University of Cambridge
- Endocrinology Research Centre, Moscow
- University of Leipzig
- University of Amsterdam
- Centro Hospitalar De São João, E.P.E.
- Martin-Luther-Universität Halle-Wittenberg
- Jagiellonian University
- Dokuz Eylul University
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
- University of Rome Tor Vergata
- University of Pisa
- University of Santiago de Compostela
- The Cyprus Institute of Neurology and Genetics
- Università degli Studi del Piemonte Orientale "Amedeo Avogadro"
- University Hospital, Marseille
- Westfälische Wilhelms-Universität Münster
- Szeged University
- Instituto de Ciências Biomédicas Abel Salazar
- University Medical Centre Ljubljana
Investigators
- Study Chair: Martin Wabitsch, Prof. Dr., University of Ulm
- Principal Investigator: David Araujo-Vilar, Prof. Dr., Santiago de Compostela University
- Principal Investigator: Julia von Schnurbein, Dr., University of Ulm
- Principal Investigator: Gabriele Nagel, Prof., University of Ulm
- Principal Investigator: Camille Vatier, Dr., Pierre et Marie Curie School of Medicine (Paris)
- Principal Investigator: Marie-Christine Vantyghem, Prof., Lille University
- Principal Investigator: Giovanni Ceccarini, Dr., Endocrine Unit, University Hospital of Pisa
- Principal Investigator: Ekaterina Sorkina, Dr., Endocrinology Research Centre, Moscow
- Principal Investigator: David Savage, Prof., University of Cambridge Metabolic Research Laboratories
Study Documents (Full-Text)
None provided.More Information
Publications
- ECLip Registry