Genetic Risk Factors Associated With Antiphospholipid Antibody Syndrome (APS)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00482794|
Recruitment Status : Recruiting
First Posted : June 5, 2007
Last Update Posted : January 26, 2023
|Condition or disease|
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.
|Study Type :||Observational|
|Estimated Enrollment :||2800 participants|
|Official Title:||Genetics of Antiphospholipid Antibody Syndrome|
|Study Start Date :||June 2006|
|Estimated Primary Completion Date :||December 2023|
|Estimated Study Completion Date :||December 2023|
Individuals with APS who also have one or more of their family members affected specifically by APS
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.
Individuals with APS and no family or no family affected with APS or another autoimmune disorder
- characterize genetic risk factors associated with the development of familial antiphospholipid antibody syndrome. [ Time Frame: duration of the study ]
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00482794
|Contact: Thomas L. Ortel, MD, PhDemail@example.com|
|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|
|Principal Investigator:||Thomas L. Ortel, MD, PhD||Duke University|