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A Diagnostic Test for Familial Mediterranean Fever

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Hospices Civils de Lyon

关键词

抽象

Familial Mediterranean Fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is due to mutations of the MEFV gene, encoding variants of the Pyrin inflammasome. Inflammasomes are protein complexes of innate immunity producing pro-inflammatory cytokines (interleukin-1β).
In vitro, preliminary results demonstrated that activation of the Pyrin inflammasome (measured by interleukin-1β concentration) by kinase inhibitors is significantly increased in FMF patients compared to subjects with a similar clinical picture, and healthy controls. In addition, a measure of cell death yielded significant results in differentiating patients from controls.
The investigators hypothesize that this fast and simple functional test can serve as a diagnostic tool for FMF.

日期

最后验证: 10/31/2018
首次提交: 11/13/2018
提交的预估入学人数: 11/18/2018
首次发布: 11/19/2018
上次提交的更新: 11/18/2018
最近更新发布: 11/19/2018
实际学习开始日期: 12/31/2018
预计主要完成日期: 06/30/2020
预计完成日期: 06/30/2020

状况或疾病

Familial Mediterranean Fever

干预/治疗

Other: In vitro functional test

Other: Healthy donors

-

手臂组

干预/治疗
Familial Mediterranean Fever (patients)
Patients with previously confirmed Familial Mediterranean Fever (based on clinical criteria)
Control group (patients)
Patients with symptoms similar to that of Familial Mediterranean Fever (e.g. Behcet disease, Crohn, sepsis..) but without confirmed Familial Mediterranean Fever.
Healthy donors
Patients without symptoms (anonymous blood donors)
Other: Healthy donors
Measurement of interleukin-1beta secretion by monocytes and measurement of cell death upon Pyrin inflammasome activation by kinase inhibitor on samples from healthy subjects who donated their blood to the French Blood Establishment.

资格标准

有资格学习的年龄 4 Years 至 4 Years
有资格学习的性别All
取样方式Probability Sample
接受健康志愿者
标准

Inclusion Criteria:

- Clinical picture compatible with an Familial Mediterranean Fever and an earlier genetic analysis finding a mutation of the MEFV gene;

- Newly diagnosed or undergoing follow-up (without criteria of delay or evolutionary stage);

- In the course of specific or non-specific treatment of the disease or without treatment;

- For whom a blood test is planned as part of the routine care;

- Of whom the informed non-opposition has been collected (parental authorization in the case of a minor patient);

Exclusion Criteria:

- patient under legal protection or under safeguard of justice or any other measures of protection (guardianship, curatorship);

- Person unable to express his consent;

- Person in emergency situation, vital or not;

- Infection known to HIV and / or HBV and / or HCV

结果

主要结果指标

1. Differences in interleukin-1bβ levels [Less than 48 hours]

Quantification of the capacity of interleukin-1β concentration measured in primary monocyte supernatants in response to kinase inhibitors, to discriminate Familial Mediterranean Fever subjects from control subjects (healthy subjects and subjects with symptoms similar to those of Familial Mediterranean Fever). Analysis have to be performed Less than 48 hours after blood sampling (only one sampling).

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