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Genetics of Antiphospholipid Antibody Syndrome (APS) - Research Study

Posted by Marie B. Walker, October, 2007 Updated January, 2009

P.I.: Thomas L. Ortel, M.D., Ph.D.
Duke University Medical Center
Rare Thrombotic Diseases Consortium

The antiphospholipid antibody syndrome (APS) consists of venous and/or arterial thromboembolic events, or recurrent fetal loss, in patients with elevated antiphospholipid antibody levels. We have recently opened a study, supported by the National Heart Lung and Blood Institute (NHLBI), investigating whether there is an inherited risk for developing APS. For this study, we are recruiting two types of families: (1) families in which an individual has APS and one or more family members also have APS; and (2) families in which an individual has APS and one or more family members has an autoimmune disorder other than APS. These alternative autoimmune disorders include systemic lupus erythematosus (SLE), type I diabetes, rheumatoid arthritis, juvenile rheumatoid arthritis, multiple sclerosis, autoimmune thyroid disease, psoriasis, inflammatory bowel disease (Crohn's or ulcerative colitis), scleroderma, Sjögren's syndrome, polymyositis, myasthenia gravis, undifferentiated connective tissue disease (UCTD), or idiopathic thrombocytopenic purpura (ITP).

To participate in the study, families will be asked to agree to the following:

  • A detailed family history interview conducted over the telephone or in person.
  • Permission to review medical records related to the diagnosis of APS or other autoimmune disorders.
  • A blood sample from the individuals with APS or other autoimmune disorder, as well as any relatives (e.g., parents, brothers, sisters, aunts, uncles etc) who are willing to give blood samples.

For inquiries about this study, from healthcare providers as well as individuals interested in potentially participating in the study, please contact the study coordinator, Letitia Talbott at or 919-684-6180. You may also visit our website at or visit for more information. You may also click here to download a brochure.

We are very interested in working with you on this exciting study. If you are interested, and would like more information, please contact us and we will send you a sample enrollment package and brochures for your review.

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Wednesday, May 22, 2024