Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
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
- В протоколе указаны: one additional blood sample during a planned blood test.
- Кому может быть актуально
- Состояния в реестре: Familial Mediterranean Fever, MEFV Gene Mutation. Базовые параметры: от 4 лет · 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
- Франция
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Обзор
Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is caused by mutations in the MEFV gene, which encodes variants of the Pyrine inflammasome. Inflammasomes are protein complexes of the innate immunity that produce pro-inflammatory cytokines (interleukin-1β). In vitro, our preliminary results demonstrated that the activation of the inflammatory pyrine (measured by the concentration of interleukin-1β) by kinase inhibitors is significantly increased in FMF patients compared to healthy subjects. Furthermore, a measurement of cell death gave significant results in differentiating the patients from the controls. The performance of this functional has been tested, fast and simple diagnostic test on common mutations and wish to assess its characteristics for MEFV mutations. The investigators hypothesize that this quick and simple functional test can serve as a diagnostic tool for FMF and can quantitatively discriminate against patients with different mutations (genotypes).
Вмешательства
- Биопрепарат one additional blood sample during a planned blood test
The study does not change the usual course of care. Only an additional blood sample (4 ml for children under 12 and 10 ml for children 12 and over and adults) during a planned blood test is specific to research (no risk added). The benefit / risk balance therefore remains unchanged with regard to the usual care of patients.
Первичные конечные точки
- Quantification of interleukin-1β [Срок оценки: At inclusion]
Критерии участия
Критерии включения
- Children 4 years of age or older or adults
- Having a clinical picture compatible with an FMF and a previous genetic analysis finding at least one mutation of the MEFV gene pathogenic or possibly pathogenic for the FMF group;
- Newly diagnosed or in the process of follow-up (with no time limit or evolutionary criteria);
- During specific or non-specific treatment of the disease or without treatment;
- For whom a blood test is planned as part of routine care;
- Whose informed non-opposition has been collected (or parental non-opposition in the case of a minor patient);
Критерии исключения
- Person under legal protection or under the protection of justice or any other protective measures;
- Person out of state to express their consent;
- Person in emergency situation, vital or not;
- Known infections with HIV and / or HBV and / or HCV;
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Да
Дизайн исследования
- Модель наблюдения
- Случай-контроль
Центры проведения
Франция · 8 центров
- Hôpital Femme-Mère-Enfant — Bron
- CH de Versailles - Hôpital André Mignot — Le Chesnay
- Hôpital Edouard Herriot — Lyon
- Hôpital de la Croix-Rousse — Lyon
- CHU de Montpellier — Montpellier
- Service de Pédiatrie - CHU de Nîmes - Hôpital Carémeau — Nîmes
- Hôpital Tenon — Paris
- Hôpital Lyon Sud — Pierre-Bénite
Идентификаторы
NCT: NCT04478409 · 69HCL20_0236