Registry for Patients With Lipodystrophy

Lipodystrophy Acquired Clinical Trial

— ECLip Registry  

Official title:

Osse Registry for Patients With Lipodystrophy Run by the European Consortium of Lipodystrophies (ECLip)

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03553420
• Other study ID #: ECLip Registry
• Status: Recruiting
• Start date: December 16, 2017
• Est. completion date: January 2068

Study information

• Verified date: December 2023
• Source: University of Ulm
• Contact: Julia von Schnurbein, Dr.
• Phone: 0049 731 500
• Email: julia.schnurbein[@]uniklinik-ulm.de
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 5000
• Est. completion date: January 2068
• Est. primary completion date: January 2068
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• lipodystrophy

Exclusion Criteria:

• lipodystrophy due to anti-retroviral drugs

Related Conditions & MeSH terms

• Lipodystrophy
• Lipodystrophy Acquired
• Lipodystrophy Congenital

Locations

Country	Name	City	State
Austria	Medical University of Vienna	Vienna
France	Lille University	Lille
France	Pierre et Marie Curie School of Medicine, Sorbonne University	Paris
Germany	Department of Internal Medicine (Endocrinology and Nephrology), University of Leipzig	Leipzig
Germany	Med. Klinik B für Gastroenterologie und Hepatologie, Universitätsklinikum Münster	Münster
Germany	Dept for Pediatrics and Adolescent Medicine, University of Ulm: Interdisciplinary obesity clinic	Ulm
Hungary	University of Szeged, Department of Internal Medicine	Budapest
Italy	Endocrinology Unit, Department of Clinical and Medical science, S. Orsola-Malpighi Hospital , University of Bologna	Bologna
Italy	Universita del piemonte Orientale	Novara
Italy	Endocrine Unit of University Hospital of Pisa	Pisa
Italy	Tor Vergata University - Policlinico of Tor Vergata	Roma
Netherlands	Academic Medical Center, University of Amsterdam	Amsterdam
Portugal	Abel Salazar Biomedical Sciences Institute - University of Porto	Porto
Russian Federation	Endocrinology Research Centre	Moscow
Slovenia	University Medical Center Ljubljana - Clinical Institute of Medical Genetics	Ljubljana
Spain	Santiago de Compostela University	Santiago de Compostela
Switzerland	Ostschweizer Kinderspital	Saint Gallen
Turkey	Dokuz Eylul University School of Medicine	Izmir
United Kingdom	University of Cambridge Metabolic Research Laboratories	Cambridge

Sponsors (19)

Lead Sponsor

Collaborator

University of Ulm

Centro Hospitalar do Porto, Dokuz Eylul University, Endocrinology Research Centre, Moscow, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Medical University of Vienna, Ostschweizer Kinderspital, Sorbonne University, Szeged University, Università degli Studi del Piemonte Orientale "Amedeo Avogadro", University Hospital Muenster, University Hospital, Lille, University Medical Centre Ljubljana, University of Amsterdam, University of Cambridge, University of Leipzig, University of Pisa, University of Rome Tor Vergata, University of Santiago de Compostela

Countries where clinical trial is conducted

Austria,  France,  Germany,  Hungary,  Italy,  Netherlands,  Portugal,  Russian Federation,  Slovenia,  Spain,  Switzerland,  Turkey,  United Kingdom, 

References & Publications (1)

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Age at death	patients are followed regularly, age at death (years) will be documented	after 20 years
Secondary	change in somatic comorbidities under standard treatment	standardized physical examination, laboratory and instrument based tests	yearly for 50 years
Secondary	genotype-phenotype correlation for patients with familial lipodystrophy	molecular genetic results will be compared to results from standardized physical examination, laboratory and instrument based tests	every 5 years for 50 years
Secondary	age at onset of metabolic complications	metabolic complications will be assessed via standardized physical examination, laboratory and instrument based tests	yearly for 50 years
Secondary	age at onset orthopedic complications	orthopedic complications will be assessed via standardized physical examination, laboratory and instrument based tests	yearly for 50 years
Secondary	age at onset neuromuscular complications	neuromuscular complications will be assessed via standardized physical examination, laboratory and instrument based tests	yearly for 50 years