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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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) |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| In vitro functional test | Other | Measurement of interleukin-1beta secretion by monocytes and measurement of cell death upon Pyrin inflammasome activation by kinase inhibitor on an additional blood sample (4 ml for children under 12 and 10 ml for children 12 years and older and adults) during a sample for patient care. |
| Measure | Description | Time Frame |
|---|---|---|
| Differences in interleukin-1bβ levels | 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). | Less than 48 hours |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with Familial Mediterranean Fever, patients controls with similar symptoms and healthy subjects who donated their blood to the French Blood Establishment.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Service de néphrologie et rhumatologie pédiatrique, Hôpital Femme Mère Enfant | Bron | 69500 | France | |||
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| ID | Term |
|---|---|
| D010505 | Familial Mediterranean Fever |
| ID | Term |
|---|---|
| D056660 | Hereditary Autoinflammatory Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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|
| In vitro functional test | Other | 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. |
|
| Unité Inserm U1111 & Service de Médecine Interne, Hôpital de la Croix-Rousse |
| Lyon |
| 69004 |
| France |
| Service de Médecine Interne, Pavillon O - Hopital Edouard Herriot | Lyon | 69437 | France |
| Service de Médecine Interne et pathologies vasculaires, Batiment 1B, Centre Hospitalier Lyon Sud | Pierre-Bénite | 69495 | France |