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Registry for Patients With Lipodystrophy (ECLip Registry)

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ClinicalTrials.gov Identifier: NCT03553420
Recruitment Status : Recruiting
First Posted : June 12, 2018
Last Update Posted : September 25, 2019
Sponsor:
Collaborators:
Sorbonne Université, Paris
University Hospital, Lille
University of Cambridge
Endocrinology Research Centre, Moscow
University of Leipzig
University of Amsterdam
Hôpital de la Timone (MARSEILLE)
Centro Hospitalar De São João, E.P.E.
Martin-Luther-Universität Halle-Wittenberg
Jagiellonian University, Krakow
Dokuz Eylul University, Izmir
Azienda Ospedaliera Universitaria di Bologna Policlinico S. Orsola Malpighi
University of Rome Tor Vergata
University of Pisa
University of Santiago de Compostela
University of Münster
Cyprus Institute of Neurology and Genetics
University of Piemonte Orientale
Information provided by (Responsible Party):
Julia von Schnurbein, University of Ulm

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.


Condition or disease
Lipodystrophy Acquired Lipodystrophy Congenital

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

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 5000 participants
Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration: 50 Years
Official Title: Osse Registry for Patients With Lipodystrophy Run by the European Consortium of Lipodystrophies (ECLip)
Actual Study Start Date : December 16, 2017
Estimated Primary Completion Date : January 2068
Estimated Study Completion Date : January 2068





Primary Outcome Measures :
  1. Age at death [ Time Frame: after 20 years ]
    patients are followed regularly, age at death (years) will be documented


Secondary Outcome Measures :
  1. change in somatic comorbidities under standard treatment [ Time Frame: yearly for 50 years ]
    standardized physical examination, laboratory and instrument based tests

  2. genotype-phenotype correlation for patients with familial lipodystrophy [ Time Frame: every 5 years for 50 years ]
    molecular genetic results will be compared to results from standardized physical examination, laboratory and instrument based tests

  3. age at onset of metabolic complications [ Time Frame: yearly for 50 years ]
    metabolic complications will be assessed via standardized physical examination, laboratory and instrument based tests

  4. age at onset orthopedic complications [ Time Frame: yearly for 50 years ]
    orthopedic complications will be assessed via standardized physical examination, laboratory and instrument based tests

  5. age at onset neuromuscular complications [ Time Frame: yearly for 50 years ]
    neuromuscular compliations will be assessed via standardized physical examination, laboratory and instrument based tests



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
Criteria

Inclusion Criteria:

  • lipodystrophy

Exclusion Criteria:

  • lipodystrophy due to anti-retroviral drugs

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03553420


Contacts
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Contact: Julia von Schnurbein, Dr. 0049 731 500 ext 57401 julia.schnurbein@uniklinik-ulm.de
Contact: Martin Wabitsch, Prof. Dr. 0049 731 500 ext 57401 martin.wabitsch@uniklinik-ulm.de

Locations
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France
Lille University Not yet recruiting
Lille, France
Contact: Marie-Christine Vantyghem, Prof.       Marie-Christine.VANTYGHEM@CHRU-LILLE.FR   
Children's hospital la Timone Not yet recruiting
Marseille, France
Contact: Nicolas Levy, Prof.       nicolas.levy@univ-amu.fr   
Pierre et Marie Curie School of Medicine Not yet recruiting
Paris, France
Contact: Camille Vatier, Dr.       camille.vatier@aphp.fr   
Germany
Institute of Human Genetics, Martin Luther University Halle-Wittenberg Not yet recruiting
Halle, Germany
Contact: Katrin Hoffmann       katrin.hoffmann@uk-halle.de   
Department of Internal Medicine (Endocrinology and Nephrology), University of Leipzig Recruiting
Leipzig, Germany
Contact: Konstanze Miehle, Dr.       Konstanze.Miehle@medizin.uni-leipzig.de   
Med. Klinik B für Gastroenterologie und Hepatologie, Universitätsklinikum Münster Not yet recruiting
Münster, Germany, 48149
Contact: Hartmut Schmidt, Prof.       hepar@ukmuenster.de   
Contact: Elena Vorona       'Elena.Vorona@ukmuenster.de'   
Dept for Pediatrics and Adolescent Medicine, University of Ulm: Interdisciplinary obesity clinic Recruiting
Ulm, Germany, 89075
Contact: Martin Wabitsch, Prof.    0049 731 500 ext 57401    martin.wabitsch@uniklinik-ulm.de   
Contact: Julia von Schnurbein, Dr. med.    0049 731 500 ext 57401    julia.schnurbien@uniklinik-ulm.de   
Principal Investigator: Martin Wabitsch, Prof. Dr.         
Principal Investigator: Julia von Schnurbein, Dr.         
Italy
Endocrinology Unit, Department of Clinical and Medical science, S. Orsola-Malpighi Hospital , University of Bologna Not yet recruiting
Bologna, Italy
Contact: Alessandra Gambinieri       alessandra.gambineri@aosp.bo.it   
Endocrine Unit, University Hospital of Pisa Recruiting
Pisa, Italy
Contact: Giovanni Ceccarini, Dr.       giovanni.ceccarini@unipi.it   
Tor Vergata University - Policlinico of Tor Vergata Not yet recruiting
Roma, Italy
Contact: Giusepe Novelli       novelli.g@gmail.com   
Netherlands
Academic Medical Center, University of Amsterdam Recruiting
Amsterdam, Netherlands
Contact: Raoul Hennekam, Prof.       r.c.hennekam@amc.uva.nl   
Poland
Jagiellonian University Not yet recruiting
Kraków, Poland
Contact: Maciej Malecki       malecki_malecki@yahoo.com   
Portugal
Centro Hospitalar de São João Not yet recruiting
Porto, Portugal
Contact: Paula Freitas       paula_freitas@sapo.pt   
Russian Federation
Endocrinology Research Centre Recruiting
Moscow, Russian Federation
Contact: Ekaterina Sorkina, MD       sorkina@bk.ru   
Spain
Santiago de Compostela University Recruiting
Santiago de Compostela, Spain
Contact: David Araujo-Vilar, Prof. Dr.       david.araujo@usc.es   
Turkey
Dokuz Eylul University School of Medicine Not yet recruiting
İzmir, Turkey
Contact: Baris Akinci       barisakincimd@gmail.com   
United Kingdom
University of Cambridge Metabolic Research Laboratories Not yet recruiting
Cambridge, United Kingdom
Contact: David Savage, Prof.       dbs23@medschl.cam.ac.uk   
Contact: Claire Adams       ca337@medschl.cam.ac.uk   
Sponsors and Collaborators
University of Ulm
Sorbonne Université, Paris
University Hospital, Lille
University of Cambridge
Endocrinology Research Centre, Moscow
University of Leipzig
University of Amsterdam
Hôpital de la Timone (MARSEILLE)
Centro Hospitalar De São João, E.P.E.
Martin-Luther-Universität Halle-Wittenberg
Jagiellonian University, Krakow
Dokuz Eylul University, Izmir
Azienda Ospedaliera Universitaria di Bologna Policlinico S. Orsola Malpighi
University of Rome Tor Vergata
University of Pisa
University of Santiago de Compostela
University of Münster
Cyprus Institute of Neurology and Genetics
University of Piemonte Orientale
Investigators
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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 Vatiers, 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
Study Director: Jannik Schaaf, Dr. Heidelberg University
Principal Investigator: Ekaterina Sorkina, Dr. Endocrinology Research Centre, Moscow
Principal Investigator: David Savage, Prof. University of Cambridge Metabolic Research Laboratories

Additional Information:

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Responsible Party: Julia von Schnurbein, Prinicipal Investigator, University of Ulm
ClinicalTrials.gov Identifier: NCT03553420     History of Changes
Other Study ID Numbers: ECLip Registry
First Posted: June 12, 2018    Key Record Dates
Last Update Posted: September 25, 2019
Last Verified: September 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Researches participating in the ECLip registry and third parties independently can request to perform research with the data.
Time Frame: As soon as data is entered into the registry, request for data analysis can be handed in.
Access Criteria: Researches participating in the ECLip registry and third parties independently can request to perform research with the data. For this a formal request for data analysis (data evaluation form; available from the Registry Board) has to be handed to the leader of the Registry Board who will pass it to all board members. These will form a proposal for the Registry members.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Julia von Schnurbein, University of Ulm:
lipodystrophy
Additional relevant MeSH terms:
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Lipodystrophy, Congenital Generalized
Lipodystrophy
Skin Diseases, Metabolic
Skin Diseases
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn