Registry for Patients With Lipodystrophy
Ориентир для пациента и семьи
Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
- Кому может быть актуально
- Состояния в реестре: Lipodystrophy Acquired, Lipodystrophy Congenital. Базовые параметры: Без ограничений · Все.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- Австрия, Франция, Германия, Греция, Венгрия +11
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Официальное название
Osse Registry for Patients With Lipodystrophy Run by the European Consortium of Lipodystrophies (ECLip)
Обзор
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.
Подробное описание
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
Первичные конечные точки
- Age at death [Срок оценки: after 20 years]
Вторичные конечные точки (5)
- change in somatic comorbidities under standard treatment [Срок оценки: yearly for 50 years]
- genotype-phenotype correlation for patients with familial lipodystrophy [Срок оценки: every 5 years for 50 years]
- age at onset of metabolic complications [Срок оценки: yearly for 50 years]
- age at onset orthopedic complications [Срок оценки: yearly for 50 years]
- age at onset neuromuscular complications [Срок оценки: yearly for 50 years]
Критерии участия
Критерии включения
- lipodystrophy
Критерии исключения
- lipodystrophy due to anti-retroviral drugs
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Только случаи
Центры проведения
Италия · 6 центров
- 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
Германия · 4 центра
- 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
Франция · 3 центра
- Lille University — Lille
- AP-HP Nord Université de Paris, Hôpital Universitaire Robert-Debré — Paris
- Pierre et Marie Curie School of Medicine, Sorbonne University — Paris
Греция · 2 центра
- National and Kapodistrian University of Athens — Athens
- Second Department of Internal Medicine, Medical School, National and Kapodistrian Universi — Athens
Turkey (Türkiye) · 2 центра
- Marmara University, Pediatric Endocrinology and Diabetes — Istanbul
- Dokuz Eylul University School of Medicine — Izmir
Австрия · 1 центр
- Medical University of Vienna — Vienna
Венгрия · 1 центр
- University of Szeged, Department of Internal Medicine — Szeged
Нидерланды · 1 центр
- Academic Medical Center, University of Amsterdam — Amsterdam
Португалия · 1 центр
- Abel Salazar Biomedical Sciences Institute - University of Porto — Porto
Румыния · 1 центр
- C. I. Parhon National Institute of Endocrinology, Bucharest, Romania — Bucharest
Россия · 1 центр
- Endocrinology Research Centre — Moscow
Словения · 1 центр
- University Medical Center Ljubljana - Clinical Institute of Medical Genetics — Ljubljana
Испания · 1 центр
- Santiago de Compostela University — Santiago de Compostela
Швейцария · 1 центр
- Stoffwechselzentrum friendlydocs — Sankt Gallen
Тайвань · 1 центр
- National Taiwan University Hospital — Taipei
Великобритания · 1 центр
- University of Cambridge Metabolic Research Laboratories — Cambridge
Публикации
- 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
Идентификаторы
NCT: NCT03553420 · ECLip Registry