Cardiovascular DiseasesNCT00005543
Genetic Epidemiology of Venous Thromboembolism
An observational study of Cardiovascular Diseases and Venous Thromboembolism, run by Mayo Clinic.
Trial summary
To determine the genetic epidemiology, including genetic and environmental interactions of the multifactorial disease, venous thromboembolism (VTE). Read more about this study
- Who is it for?
- Ages Up to 100 years, men only
- Conditions the study is for
- Cardiovascular Diseases, Venous Thromboembolism
- How many people
- 3,135 participants
- Where
- No sites listed yet
- Study dates
- Apr 1999to Jun 2005
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 100 years
- Men only
- No healthy volunteers
- Child, Adult, Older adult
No eligibility criteria
About this study
To determine the genetic epidemiology, including genetic and environmental interactions of the multifactorial disease, venous thromboembolism (VTE).
Read the detailed description
BACKGROUND:
Venous thromboembolism is a major national health problem, with at least 201,000 first lifetime cases per year in the United States. Over 50,000 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.
- Conditions
- Cardiovascular Diseases, Venous Thromboembolism
- Medical subject headings
- Cardiovascular Diseases, Venous Thromboembolism
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 May 2000 (estimated)
- Study startApr 1999
- Primary completionJun 2005
- Study completionJun 2005
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (14)Papers the sponsor has linked to this study.
- Other trials for Cardiovascular DiseasesStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Time perspective
- Prospective
- Enrolment
- 3,135 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Investigators
- John Heit, Mayo Foundation
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00005543
- Sponsor's protocol ID
- 962-98
- Other IDs
- R01HL060279
- Status last verified
- Dec 2015
- First submitted
- 25 May 2000
- Last updated
- 30 Dec 2015
- Results posted
- No
Publications
Taliani MR, Roberts SC, Dukek BA, Pruthi RK, Nichols WL, Heit JA. Sensitivity and specificity of denaturing high-pressure liquid chromatography for unknown protein C gene mutations. Genet Test. 2001 Spring;5(1):39-44. doi: 10.1089/109065701750168680.
PubMed 11336399Heit JA. Prevention of venous thromboembolism. Clin Geriatr Med. 2001 Feb;17(1):71-92. doi: 10.1016/s0749-0690(05)70107-5.
PubMed 11270135Shields RC, McBane RD, Kuiper JD, Li H, Heit JA. Efficacy and safety of intravenous phytonadione (vitamin K1) in patients on long-term oral anticoagulant therapy. Mayo Clin Proc. 2001 Mar;76(3):260-6. doi: 10.4065/76.3.260.
PubMed 11243272Swensen SJ, Sheedy PF 2nd, Ryu JH, Pickett DD, Schleck CD, Ilstrup DM, Heit JA. Outcomes after withholding anticoagulation from patients with suspected acute pulmonary embolism and negative computed tomographic findings: a cohort study. Mayo Clin Proc. 2002 Feb;77(2):130-8. doi: 10.4065/77.2.130.
PubMed 11838646Heit JA. Perioperative management of the chronically anticoagulated patient. J Thromb Thrombolysis. 2001 Sep;12(1):81-7. doi: 10.1023/a:1012746729537.
PubMed 11711693Heit JA, Rooke TW, Silverstein MD, Mohr DN, Lohse CM, Petterson TM, O'Fallon WM, Melton LJ 3rd. Trends in the incidence of venous stasis syndrome and venous ulcer: a 25-year population-based study. J Vasc Surg. 2001 May;33(5):1022-7. doi: 10.1067/mva.2001.113308.
PubMed 11331844Heit JA. Low-molecular-weight heparin: the optimal duration of prophylaxis against postoperative venous thromboembolism after total hip or knee replacement. Thromb Res. 2001 Jan 1;101(1):V163-73. doi: 10.1016/s0049-3848(00)00388-1.
PubMed 11342096Danilenko-Dixon DR, Heit JA, Silverstein MD, Yawn BP, Petterson TM, Lohse CM, Melton LJ 3rd. Risk factors for deep vein thrombosis and pulmonary embolism during pregnancy or post partum: a population-based, case-control study. Am J Obstet Gynecol. 2001 Jan;184(2):104-10. doi: 10.1067/mob.2001.107919.
PubMed 11174488Heit JA. Venous thromboembolism epidemiology: implications for prevention and management. Semin Thromb Hemost. 2002 Jun;28 Suppl 2:3-13. doi: 10.1055/s-2002-32312.
PubMed 12073175Heit JA. Mapping out the future in venous thromboembolism and acute coronary syndromes. Semin Thromb Hemost. 2002 Aug;28 Suppl 3:33-9. doi: 10.1055/s-2002-34073.
PubMed 12232821Heit JA. Risk factors for venous thromboembolism. Clin Chest Med. 2003 Mar;24(1):1-12. doi: 10.1016/s0272-5231(02)00077-1.
PubMed 12685052Heit JA. Current management of acute symptomatic deep vein thrombosis. Am J Cardiovasc Drugs. 2001;1(1):45-50. doi: 10.2165/00129784-200101010-00005.
PubMed 14728051Heit JA, Petterson TM, Owen WG, Burke JP, DE Andrade M, Melton LJ 3rd. Thrombomodulin gene polymorphisms or haplotypes as potential risk factors for venous thromboembolism: a population-based case-control study. J Thromb Haemost. 2005 Apr;3(4):710-7. doi: 10.1111/j.1538-7836.2005.01187.x.
PubMed 15842356Heit JA, Sobell JL, Li H, Sommer SS. The incidence of venous thromboembolism among Factor V Leiden carriers: a community-based cohort study. J Thromb Haemost. 2005 Feb;3(2):305-11. doi: 10.1111/j.1538-7836.2004.01117.x.
PubMed 15670037
Study at a glance
From the registry record, last updated by the sponsor on 30 Dec 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Epidemiology of Venous Thromboembolism
- ClinicalTrials.gov ID
- NCT00005543
- Acronym / sponsor ID
- 962-98
- Conditions
- Cardiovascular Diseases, Venous Thromboembolism
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 3,135 participants (actual)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Collaborators
- National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- Apr 1999
- Primary completion
- Jun 2005 (actual)
- Study completion
- Jun 2005 (actual)
- First posted
- 26 May 2000 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 201,000 first lifetime cases per year in the United States. Over 50,000 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 design
- Time perspective
- Prospective
Who may qualify
- Ages
- Up to 100 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Dec 2015.
- Background: PubMed 11336399Taliani MR, Roberts SC, Dukek BA, Pruthi RK, Nichols WL, Heit JA. Sensitivity and specificity of denaturing high-pressure liquid chromatography for unknown protein C gene mutations. Genet Test. 2001 Spring;5(1):39-44. doi: 10.1089/109065701750168680.
- Background: PubMed 11270135Heit JA. Prevention of venous thromboembolism. Clin Geriatr Med. 2001 Feb;17(1):71-92. doi: 10.1016/s0749-0690(05)70107-5.
- Background: PubMed 11243272Shields RC, McBane RD, Kuiper JD, Li H, Heit JA. Efficacy and safety of intravenous phytonadione (vitamin K1) in patients on long-term oral anticoagulant therapy. Mayo Clin Proc. 2001 Mar;76(3):260-6. doi: 10.4065/76.3.260.
- Background: PubMed 11838646Swensen SJ, Sheedy PF 2nd, Ryu JH, Pickett DD, Schleck CD, Ilstrup DM, Heit JA. Outcomes after withholding anticoagulation from patients with suspected acute pulmonary embolism and negative computed tomographic findings: a cohort study. Mayo Clin Proc. 2002 Feb;77(2):130-8. doi: 10.4065/77.2.130.
- Background: PubMed 11711693Heit JA. Perioperative management of the chronically anticoagulated patient. J Thromb Thrombolysis. 2001 Sep;12(1):81-7. doi: 10.1023/a:1012746729537.
- Background: PubMed 11331844Heit JA, Rooke TW, Silverstein MD, Mohr DN, Lohse CM, Petterson TM, O'Fallon WM, Melton LJ 3rd. Trends in the incidence of venous stasis syndrome and venous ulcer: a 25-year population-based study. J Vasc Surg. 2001 May;33(5):1022-7. doi: 10.1067/mva.2001.113308.
- Background: PubMed 11342096Heit JA. Low-molecular-weight heparin: the optimal duration of prophylaxis against postoperative venous thromboembolism after total hip or knee replacement. Thromb Res. 2001 Jan 1;101(1):V163-73. doi: 10.1016/s0049-3848(00)00388-1.
- Background: PubMed 11174488Danilenko-Dixon DR, Heit JA, Silverstein MD, Yawn BP, Petterson TM, Lohse CM, Melton LJ 3rd. Risk factors for deep vein thrombosis and pulmonary embolism during pregnancy or post partum: a population-based, case-control study. Am J Obstet Gynecol. 2001 Jan;184(2):104-10. doi: 10.1067/mob.2001.107919.
- Background: PubMed 12073175Heit JA. Venous thromboembolism epidemiology: implications for prevention and management. Semin Thromb Hemost. 2002 Jun;28 Suppl 2:3-13. doi: 10.1055/s-2002-32312.
- Background: PubMed 12232821Heit JA. Mapping out the future in venous thromboembolism and acute coronary syndromes. Semin Thromb Hemost. 2002 Aug;28 Suppl 3:33-9. doi: 10.1055/s-2002-34073.
- Background: PubMed 12685052Heit JA. Risk factors for venous thromboembolism. Clin Chest Med. 2003 Mar;24(1):1-12. doi: 10.1016/s0272-5231(02)00077-1.
- Background: PubMed 14728051Heit JA. Current management of acute symptomatic deep vein thrombosis. Am J Cardiovasc Drugs. 2001;1(1):45-50. doi: 10.2165/00129784-200101010-00005.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
John Heit
Mayo Foundation
Questions about this trial
What is this clinical trial studying?
An observational study of Cardiovascular Diseases and Venous Thromboembolism, run by Mayo Clinic.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 30 Dec 2015. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00005543, which also lists 14 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Dec 2015.