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Sponsors and Collaborators: |
Office of Rare Diseases (ORD) National Heart, Lung, and Blood Institute (NHLBI) Rare Diseases Clinical Research Network |
Information provided by: | Office of Rare Diseases (ORD) |
ClinicalTrials.gov Identifier: | NCT00482794 |
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: | Cohort, Other |
Official Title: | Genetics of Antiphospholipid Antibody Syndrome |
Serum, plasma, and DNA samples
Estimated Enrollment: | 2800 |
Study Start Date: | June 2006 |
Estimated Study Completion Date: | December 2008 |
Estimated Primary Completion Date: | December 2008 (Final data collection date for primary outcome measure) |
Groups/Cohorts |
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Individuals with APS who also have one or more of their family members affected specifically by APS
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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.
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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.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Individuals with antiphospholipid antibody syndrome and their family members
Inclusion Criteria:
Persistent presence of an antiphospholipid antibody, as defined by one or both of the following criteria:
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:
Evidence of at least one affected relative (e.g., brother, sister, father, mother, etc.) who tests positive for either of the following:
Exclusion Criteria:
Contact: Thomas L. Ortel, MD, PhD | 919-684-5350 | thomas.ortel@duke.edu |
United States, Georgia | |||||
Centers for Disease Control and Prevention | Not yet recruiting | ||||
Atlanta, Georgia, United States, 30333 | |||||
Principal Investigator: W. Craig Hooper, PhD | |||||
United States, Minnesota | |||||
Mayo Clinic | Not yet recruiting | ||||
Rochester, Minnesota, United States, 55905 | |||||
Principal Investigator: John Heit, MD | |||||
United States, North Carolina | |||||
Duke University Medical Center | Recruiting | ||||
Durham, North Carolina, United States, 27710 | |||||
Principal Investigator: Thomas L. Ortel, MD, PhD | |||||
Principal Investigator: Margaret Pericak-Vance, MD, PhD | |||||
Principal Investigator: Silke Schmidt, PhD | |||||
Principal Investigator: Jeffrey Vance, MD, PhD | |||||
University of North Carolina, Chapel Hill | Recruiting | ||||
Chapel Hill, North Carolina, United States, 27599 | |||||
Principal Investigator: Robert Roubey, MD | |||||
United States, Wisconsin | |||||
University of Wisconsin | Not yet recruiting | ||||
Madison, Wisconsin, United States, 53706 | |||||
Principal Investigator: Karen E. Hansen, MD |
Office of Rare Diseases (ORD) |
National Heart, Lung, and Blood Institute (NHLBI) |
Rare Diseases Clinical Research Network |
Principal Investigator: | Thomas L. Ortel, MD, PhD | Duke University |
Click here for the Genetics of Antiphospholipid Antibody Syndrome study website 
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Responsible Party: | Duke University Medical Center ( Thomas Ortel, MD, PhD ) |
Study ID Numbers: | RDCRN 5806 |
First Received: | June 1, 2007 |
Last Updated: | February 11, 2008 |
ClinicalTrials.gov Identifier: | NCT00482794 |
Health Authority: | United States: Federal Government |
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