Clinical trial NCT03553420: Registry for Patients With Lipodystrophy
Official title: Osse Registry for Patients With Lipodystrophy Run by the European Consortium of Lipodystrophies (ECLip)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Lipodystrophy Acquired
Lipodystrophy Congenital
Keywords: lipodystrophy
Lead sponsor: University of Ulm
Sponsor class: OTHER
Collaborators: name: Sorbonne University
name: University Hospital, Lille
name: University of Cambridge
name: Endocrinology Research Centre, Moscow
name: University of Leipzig
name: University of Amsterdam
name: Dokuz Eylul University
name: IRCCS Azienda Ospedaliero-Universitaria di Bologna
name: University of Rome Tor Vergata
name: University of Pisa
name: University of Santiago de Compostela
name: Università degli Studi del Piemonte Orientale Amedeo Avogadro
name: University Hospital Muenster
name: Szeged University
name: Centro Hospitalar do Porto
name: University Medical Centre Ljubljana
name: Medical University of Vienna
name: Ostschweizer Kinderspital
First posted: 2018-06-12
Enrollment: 5000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: all patients with lipodystrophy not due to anti-retroviral drugs presenting to a participating center might be entered

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.

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

Eligibility criteria: Inclusion Criteria:

* lipodystrophy

Exclusion Criteria:

* lipodystrophy due to anti-retroviral drugs

Primary outcomes:
measure: Age at death
timeFrame: after 20 years
Secondary outcomes:
measure: change in somatic comorbidities under standard treatment
timeFrame: yearly for 50 years
measure: genotype-phenotype correlation for patients with familial lipodystrophy
timeFrame: every 5 years for 50 years
measure: age at onset of metabolic complications
timeFrame: yearly for 50 years
measure: age at onset orthopedic complications
timeFrame: yearly for 50 years
measure: age at onset neuromuscular complications
timeFrame: yearly for 50 years
Other outcomes:
Locations:
city: Vienna
country: Austria
facility: Medical University of Vienna
city: Lille
country: France
facility: Lille University
city: Paris
country: France
facility: Pierre et Marie Curie School of Medicine, Sorbonne University
city: Leipzig
country: Germany
facility: Department of Internal Medicine (Endocrinology and Nephrology), University of Leipzig
city: Münster
country: Germany
facility: Med. Klinik B für Gastroenterologie und Hepatologie, Universitätsklinikum Münster
city: Ulm
country: Germany
facility: Dept for Pediatrics and Adolescent Medicine, University of Ulm: Interdisciplinary obesity clinic
city: Budapest
country: Hungary
facility: University of Szeged, Department of Internal Medicine
city: Bologna
country: Italy
facility: Endocrinology Unit, Department of Clinical and Medical science, S. Orsola-Malpighi Hospital , University of Bologna
city: Novara
country: Italy
facility: Universita del piemonte Orientale
city: Pisa
country: Italy
facility: Endocrine Unit of University Hospital of Pisa
city: Roma
country: Italy
facility: Tor Vergata University - Policlinico of Tor Vergata
city: Amsterdam
country: Netherlands
facility: Academic Medical Center, University of Amsterdam
city: Porto
country: Portugal
facility: Abel Salazar Biomedical Sciences Institute - University of Porto
city: Moscow
country: Russian Federation
facility: Endocrinology Research Centre
city: Ljubljana
country: Slovenia
facility: University Medical Center Ljubljana - Clinical Institute of Medical Genetics
city: Santiago de Compostela
country: Spain
facility: Santiago de Compostela University
city: Saint Gallen
country: Switzerland
facility: Ostschweizer Kinderspital
city: İzmir
country: Turkey
facility: Dokuz Eylul University School of Medicine
city: Cambridge
country: United Kingdom
facility: University of Cambridge Metabolic Research Laboratories
Study officials:
affiliation: University of Ulm
name: Martin Wabitsch, Prof. Dr.
role: STUDY_CHAIR
affiliation: Santiago de Compostela University
name: David Araujo-Vilar, Prof. Dr.
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Ulm
name: Julia von Schnurbein, Dr.
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Ulm
name: Gabriele Nagel, Prof.
role: PRINCIPAL_INVESTIGATOR
affiliation: Pierre et Marie Curie School of Medicine (Paris)
name: Camille Vatier, Dr.
role: PRINCIPAL_INVESTIGATOR
affiliation: Lille University
name: Marie-Christine Vantyghem, Prof.
role: PRINCIPAL_INVESTIGATOR
affiliation: Endocrine Unit, University Hospital of Pisa
name: Giovanni Ceccarini, Dr.
role: PRINCIPAL_INVESTIGATOR
affiliation: Endocrinology Research Centre, Moscow
name: Ekaterina Sorkina, Dr.
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Cambridge Metabolic Research Laboratories
name: David Savage, Prof.
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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. doi: 10.1186/s13023-020-1295-y.