Genetic Risk Factors Associated With Antiphospholipid Antibody Syndrome (APS)

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2014 by Duke University
Sponsor:
Information provided by (Responsible Party):
Duke University
ClinicalTrials.gov Identifier:
NCT00482794
First received: June 1, 2007
Last updated: August 29, 2014
Last verified: August 2014
  Purpose

Antiphospholipid antibody syndrome (APS) is characterized by the presence of antiphospholipid antibodies, which are proteins in the blood that interfere with the body's ability to perform normal blood clotting. Clinical problems associated with antiphospholipid antibodies include an increased risk for the formation of blood clots in the lungs or deep veins of the legs, stroke, heart attack, and recurrent miscarriages. It is possible that some people with APS have a genetic predisposition for developing the syndrome. This study will use a genetic strategy to identify potential inherited risk factors for the development of APS by recruiting people with APS who have family members also affected by the syndrome or by another autoimmune disorder, such as lupus or rheumatoid arthritis.


Condition
Antiphospholipid Syndrome

Study Type: Observational
Study Design: Observational Model: Cohort
Official Title: Genetics of Antiphospholipid Antibody Syndrome

Resource links provided by NLM:


Further study details as provided by Duke University:

Primary Outcome Measures:
  • characterize genetic risk factors associated with the development of familial antiphospholipid antibody syndrome. [ Time Frame: duration of the study ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Serum, plasma, and DNA samples


Estimated Enrollment: 2800
Study Start Date: June 2006
Estimated Study Completion Date: July 2015
Estimated Primary Completion Date: July 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts
1
Individuals with APS who also have one or more of their family members affected specifically by APS
2
Individuals with APS who also have one or more of their family members affected by another type of autoimmune disorder, such as lupus or rheumatoid arthritis.
3
Individuals with APS and no family or no family affected with APS or another autoimmune disorder

Detailed Description:

APS is an autoimmune disorder that causes an increased risk for developing a venous or arterial thromboembolism, as well as recurrent miscarriages. APS frequently occurs in people with lupus, and is referred to as secondary APS in this case. Many people who have APS, however, do not have another autoimmune disorder, and their disease is referred to as primary APS. APS may be a genetic disorder, and identifying the gene(s) that predisposes an individual to develop it could lead to a better understanding of the disease, as well as improved therapies. This study will use a genetic strategy to identify potential risk factors for the development of APS by recruiting people with APS who have family members who are either affected by the syndrome or who have another autoimmune disorder. The results of the genetic testing will be compared among the following two groups of families: people with APS who also have one or more of their family members affected specifically by APS; and people with APS who also have one or more of their family members affected by another type of autoimmune disorder, such as lupus or rheumatoid arthritis.

Participants in this study will perform a pre-screening questionnaire over the phone to determine relevant clinical diagnoses and collect a brief family history of autoimmune disorders. Eligible participants will receive an enrollment package in the mail. If possible, participants will then report to the study site to supply a detailed family and medical history and provide a blood sample for analysis for antiphospholipid antibodies and preparation of genomic DNA. If participants are unable to attend the study visit, the interviews will be conducted over the phone. Those who are unable to attend the site visit will receive a blood enrollment kit in the mail, and these participants will report to a convenient location for phlebotomy services. Participants who have already provided blood samples for the APS Collaborative Registry (APSCORE) may not have to provide another sample for this study. Information collected for statistical analysis will include the following data: demographic information; co-morbid conditions and chronic risk factors; lipid profile; history of recurrent infections, renal failure, and cardiovascular disease; height and weight; details of any medications and supplements currently being taken; venous and arterial thromboembolic events; and any history of adverse pregnancy outcomes.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Individuals with antiphospholipid antibody syndrome and their family members

Criteria

Inclusion Criteria:

  • Persistent presence of an antiphospholipid antibody, as defined by one or both of the following criteria:

    1. Medium or high anticardiolipin antibody level in the blood on two or more occasions at least 6 weeks apart
    2. Presence of lupus anticoagulant in the plasma on two or more occasions at least 6 weeks apart
  • Presence of clinical symptoms seen in patients with APS, including vascular thrombosis (one or more clinical episodes of arterial, venous, or small vessel thrombosis in any tissue or organ) and/or pregnancy morbidity, defined as any of the following:

    1. One or more unexplained deaths of a morphologically normal fetus at or beyond the 10th week of gestation, with normal fetus morphology documented by ultrasound or direct examination or the fetus
    2. One or more premature births of a morphologically normal baby at or before the 34th week of gestation because of severe pre-eclampsia, eclampsia, or severe placental insufficiency
    3. Three or more unexplained consecutive spontaneous abortions before the 10th week of gestation, with maternal anatomic or hormonal abnormalities and paternal and maternal chromosomal causes excluded
  • People who have elevated antiphospholipid antibody levels but do not fully meet clinical criteria for APS, and do have affected family members, will be considered for enrollment

Exclusion Criteria:

  • No documented presence of antiphospholipid antibody
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00482794

Contacts
Contact: Thomas L. Ortel, MD, PhD 919-684-5350 thomas.ortel@duke.edu

Locations
United States, North Carolina
Duke University Medical Center Recruiting
Durham, North Carolina, United States, 27710
Principal Investigator: Thomas L. Ortel, MD, PhD         
Principal Investigator: Silke Schmidt, PhD         
Sponsors and Collaborators
Duke University
Investigators
Principal Investigator: Thomas L. Ortel, MD, PhD Duke University
  More Information

Publications:
Responsible Party: Duke University
ClinicalTrials.gov Identifier: NCT00482794     History of Changes
Other Study ID Numbers: Pro00013845
Study First Received: June 1, 2007
Last Updated: August 29, 2014
Health Authority: United States: Federal Government

Keywords provided by Duke University:
Antiphospholipid Antibody Syndrome

Additional relevant MeSH terms:
Antiphospholipid Syndrome
Syndrome
Disease
Pathologic Processes
Autoimmune Diseases
Immune System Diseases
Antibodies
Antibodies, Antiphospholipid
Immunologic Factors
Physiological Effects of Drugs
Pharmacologic Actions

ClinicalTrials.gov processed this record on September 30, 2014