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Identify new genetic mutations predisposing to an increased risk of VTE by locating and / or identifying genes involved in subjects at high risk for thrombotic and in whom screening for detectable hereditary thrombophilia was negative.
Venous thromboembolism desease is a public health problem justifying major primary and secondary prevention policy. When VTE occurs in the absence of risk factor clinically identifiable ( "idiopathic"), an inherited biological risk factor ( "inherited thrombophilia") is found in 30% of cases. However, in patients with idiopathic VTE, the risk of recurrent venous thromboembolism is very high, whether detectable inherited thrombophilia was found or not.
This first observation suggests that patients with idiopathic VTE and no detectable thrombophilia are likely to have an underlying unknown thrombophilia that are yet to be discovered.
This hypothesis is further supported by the results of the study "FIT" (Regional PHRC 2001, promoter CHU Brest, Investigator Main: Francis Couturaud, EA3878 Brest, France, and investigator Associate: Clive Kearon, McMaster University, Hamilton, Ontario, Canada), a cross international study evaluating the risk of VTE among the family members first degree of patients a first idiopathic VTE episode. In this large study cross-1950 family members first degree (topics study) of 372 patients with a first episode of VTE Idiopathic (propositi) were included (50% included in Brest and 50% inclusive in Canada). The main result is that the risk of VTE among family members first degree is high and similar, the proband either bearer or without a detectable hereditary thrombophilia. In other words, even in the absence of detectable hereditary thrombophilia, the risk of VTE among family members first degree is high. This study has identified the subjects in that it is likely they have an inherited thrombophilia which has not yet been discovered.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Genetic sample | Blood sample or saliva collection to genetic research |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic sample | Genetic | Blood sample or saliva collection |
|
| Measure | Description | Time Frame |
|---|---|---|
| Research of new genetic mutations | Identify new genetic mutations predisposing risk increased Thromboembolic Venous Disease by locating and / or identifying the genes involved in subjects at high risk for thrombotic and in whom screening for detectable inherited or acquired thrombophilia was negative. was negative. | 1 day |
| Measure | Description | Time Frame |
|---|---|---|
| Quantify the presence of new thrombophilia hereditary risk of Thromboembolic Venous Disease | Quantify the importance of the presence of new thrombophilia hereditary risk of Thromboembolic Venous Disease. | 1 day |
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Inclusion Criteria:
Family members in the 1st, 2nd, 3rd and 4th degree (and their spouses if they have a descent) of patients (propositi) who:
Written Consent of propositi and their members in the 2nd, 3rd and 4th respective degree to participate in this study.
Exclusion Criteria:
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Family members in the 1st, 2nd, 3rd and 4th degree (and their spouses if they have a descent) of patients (propositi) who:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHRU de Brest | Brest | 29200 | France |
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| ID | Term |
|---|---|
| D019851 | Thrombophilia |
| ID | Term |
|---|---|
| D006402 | Hematologic Diseases |
| D006425 | Hemic and Lymphatic Diseases |
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Blood or saliva sample