Ignite Creation Date:
2024-05-05 @ 11:22 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00005543
Status:
COMPLETED
Last Update Posted:
2015-12-30
First Post:
2000-05-25
Brief Title:
Genetic Epidemiology of Venous Thromboembolism
Sponsor:
Mayo Clinic
Organization:
Mayo Clinic
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
2015-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
To determine the genetic epidemiology including genetic and environmental interactions of the multifactorial disease venous thromboembolism VTE
Detailed Description:
BACKGROUND
Venous thromboembolism is a major national health problem with at least 201000 first lifetime cases per year in the United States Over 50000 of these patients die within seven days and for 20 percent death is rapid with insufficient time for medical intervention Recurrent VTE is frequent and also associated with death as well as chronic impairment due to the venous stasis syndrome Thus identification of high-risk patients for targeted VTE prophylaxis or treatment is necessary to improve survival and prevent impairment While clinical risk factors can identify a population at risk such risk factors have low predictive value for the individual patient The high prevalence of the Factor V R506Q Leiden and Prothrombin 20210G -- A mutations among VTE patients suggests the hypothesis that additional genetic abnormalities of coagulation thrombophilia are associated with a substantial proportion of VTE cases
DESIGN NARRATIVE
The study had a case-control design Using stored DNA samples the investigators screened for mutations within the candidate genes for Factor V R506Q Leiden and Prothrombin 20210G -- A using either dideoxy bi-directional dideoxy or restriction endonuclease fingerprinting and performing population-based case-control and cohort studies using a previously identified 30-year VTE inception cohort
The specific aims were 1 to screen genomic DNA from patients with VTE for mutations within candidate genes encoding for prothrombin thrombomodulin tissue factor pathway inhibitor tissue factor factor VII and factor X and to determine if the mutation predicted a change in either protein expression or structure 2 in population-based case-control studies a to test the hypothesis that such a mutation was associated with VTE estimate the strength of the association and determine the independence of the association after controlling for other environmental risk factors and coagulation abnormalities including interactions and b to test the hypothesis that a mutation was associated with death and autopsy 3 to estimate the attributable risk for VTE associated with each significant mutation both individually and for all independently significant mutations collectively while controlling for other environmental risk factors and coagulation abnormalities and 4 in a population-based retrospective cohort study to estimate the time-to-VTE recurrence and to test the hypothesis that each significant mutation was an independent predictor of VTE recurrence after controlling for other environmental predictors and coagulation abnormalities including interactions
Venous thromboembolism is a major national health problem with at least 201000 first lifetime cases per year in the United States Over 50000 of these patients die within seven days and for 20 percent death is rapid with insufficient time for medical intervention Recurrent VTE is frequent and also associated with death as well as chronic impairment due to the venous stasis syndrome Thus identification of high-risk patients for targeted VTE prophylaxis or treatment is necessary to improve survival and prevent impairment While clinical risk factors can identify a population at risk such risk factors have low predictive value for the individual patient The high prevalence of the Factor V R506Q Leiden and Prothrombin 20210G -- A mutations among VTE patients suggests the hypothesis that additional genetic abnormalities of coagulation thrombophilia are associated with a substantial proportion of VTE cases
DESIGN NARRATIVE
The study had a case-control design Using stored DNA samples the investigators screened for mutations within the candidate genes for Factor V R506Q Leiden and Prothrombin 20210G -- A using either dideoxy bi-directional dideoxy or restriction endonuclease fingerprinting and performing population-based case-control and cohort studies using a previously identified 30-year VTE inception cohort
The specific aims were 1 to screen genomic DNA from patients with VTE for mutations within candidate genes encoding for prothrombin thrombomodulin tissue factor pathway inhibitor tissue factor factor VII and factor X and to determine if the mutation predicted a change in either protein expression or structure 2 in population-based case-control studies a to test the hypothesis that such a mutation was associated with VTE estimate the strength of the association and determine the independence of the association after controlling for other environmental risk factors and coagulation abnormalities including interactions and b to test the hypothesis that a mutation was associated with death and autopsy 3 to estimate the attributable risk for VTE associated with each significant mutation both individually and for all independently significant mutations collectively while controlling for other environmental risk factors and coagulation abnormalities and 4 in a population-based retrospective cohort study to estimate the time-to-VTE recurrence and to test the hypothesis that each significant mutation was an independent predictor of VTE recurrence after controlling for other environmental predictors and coagulation abnormalities including interactions
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| R01HL060279 | NIH | None | httpsreporternihgovquickSearchR01HL060279 |