Registry for Patients With Lipodystrophy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Lipodystrophy Acquired, Lipodystrophy Congenital. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Austria, France, Germany, Greece, Hungary +11
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Osse Registry for Patients With Lipodystrophy Run by the European Consortium of Lipodystrophies (ECLip)
Overview
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.
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:
* Precise diagnosis including moleculargenetic results * Clinical presentation and comorbidities * Laboratory changes and results of diagnostic procedures * Natural course of the disease including age at onset of disease and comorbidities * 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
* new insights into the pathophysiology of lipodystrophy * improve therapeutic options for the patients * compile information material for patients, families and relevant professionals
Primary outcome measures
- Age at death [Time frame: after 20 years]
Secondary outcome measures (5)
- change in somatic comorbidities under standard treatment [Time frame: yearly for 50 years]
- genotype-phenotype correlation for patients with familial lipodystrophy [Time frame: every 5 years for 50 years]
- age at onset of metabolic complications [Time frame: yearly for 50 years]
- age at onset orthopedic complications [Time frame: yearly for 50 years]
- age at onset neuromuscular complications [Time frame: yearly for 50 years]
Eligibility criteria
Inclusion criteria
- lipodystrophy
Exclusion criteria
- lipodystrophy due to anti-retroviral drugs
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
Italy · 6 centers
- Endocrinology Unit, Department of Clinical and Medical science, S. Orsola-Malpighi Hospita — Bologna
- Policlinic University Hospital of Milan — Milan
- Universita del piemonte Orientale — Novara
- Palermo University — Palermo
- Endocrine Unit of University Hospital of Pisa — Pisa
- Tor Vergata University - Policlinico of Tor Vergata — Roma
Germany · 4 centers
- Kinder-und Jugendkrankenhaus AUF DER BULT — Hanover
- Department of Internal Medicine (Endocrinology and Nephrology), University of Leipzig — Leipzig
- Med. Klinik B für Gastroenterologie und Hepatologie, Universitätsklinikum Münster — Münster
- Dept for Pediatrics and Adolescent Medicine, University of Ulm: Interdisciplinary obesity — Ulm
France · 3 centers
- Lille University — Lille
- AP-HP Nord Université de Paris, Hôpital Universitaire Robert-Debré — Paris
- Pierre et Marie Curie School of Medicine, Sorbonne University — Paris
Greece · 2 centers
- National and Kapodistrian University of Athens — Athens
- Second Department of Internal Medicine, Medical School, National and Kapodistrian Universi — Athens
Turkey (Türkiye) · 2 centers
- Marmara University, Pediatric Endocrinology and Diabetes — Istanbul
- Dokuz Eylul University School of Medicine — Izmir
Austria · 1 center
- Medical University of Vienna — Vienna
Hungary · 1 center
- University of Szeged, Department of Internal Medicine — Szeged
Netherlands · 1 center
- Academic Medical Center, University of Amsterdam — Amsterdam
Portugal · 1 center
- Abel Salazar Biomedical Sciences Institute - University of Porto — Porto
Romania · 1 center
- C. I. Parhon National Institute of Endocrinology, Bucharest, Romania — Bucharest
Russia · 1 center
- Endocrinology Research Centre — Moscow
Slovenia · 1 center
- University Medical Center Ljubljana - Clinical Institute of Medical Genetics — Ljubljana
Spain · 1 center
- Santiago de Compostela University — Santiago de Compostela
Switzerland · 1 center
- Stoffwechselzentrum friendlydocs — Sankt Gallen
Taiwan · 1 center
- National Taiwan University Hospital — Taipei
United Kingdom · 1 center
- University of Cambridge Metabolic Research Laboratories — Cambridge
Publications
- von Schnurbein J, Adams C, Akinci B, Ceccarini G, D'Apice MR, Gambineri A, Hennekam RCM, Jeru I, Lattanzi G, Miehle K, Nagel G, Novelli G, Santini F, Santos Silva E, Savage DB, Sbraccia P, Schaaf J, Sorkina E, Tanteles G, Vantyghem MC, Vatier C, Vigouroux C, Vorona E, Araujo-Vilar D, Wabitsch M. European lipodystrophy registry: background and structure. Orphanet J Rare Dis. 2020 Jan 15;15(1):17. d PMID 31941540
Identifiers
NCT: NCT03553420 · ECLip Registry