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Clinical Studies

5806: Genetics of antiphospholipid antibody syndrome (APS)

Status: Recruiting

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

Why are we doing this study?

We know very little about what causes antiphospholipid antibody syndrome (APS). Sometimes several family members have APS. Other times, one person has APS and other relatives have a different autoimmune disease like lupus or diabetes. Because APS sometimes runs in families, we think that certain genes may cause APS. The purpose of this study is to find the genes that cause APS.

How can my family help?

If your family has one or more members with APS or other autoimmune diseases, your family may be able to join our study.

Target Enrollment:

Participants will be recruited for this study using brief diagnostic inclusion criteria for antiphospholipid antibody syndrome. This includes:

1. Persistent presence of an antiphospholipid antibody (aPL), defined as:
   1. Elevated anticardiolipin antibody level in the blood, present in medium or high titer, on 2 or more occasions, at least 6 weeks apart; and/or
   2. Lupus anticoagulant present in plasma, on 2 or more occasions at least 6 week apart and
2. Presence of clinical symptoms seen in patients with APS:
   1. Vascular thrombosis: One or more clinical episodes of arterial, venous, or small vessel thrombosis, in any tissue or organ, and/or
   2. Pregnancy morbidity, defined as:
      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 by direct examination of the fetus, or
      2. One or more premature births of a morphologically normal neonate at or before the 34th week of gestation because of severe pre-eclampsia, or eclampsia, or severe placental insufficiency, or
      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
3. Evidence of at least one affected relative positive for either:
   1. Antiphospholipid antibody syndrome
   2. Other autoimmune disorder including rhematoid arthritis; juvenile rheumatoid arthritis; SLE; multiple sclerosis; autoimmune thyroid disease; type I diabetes mellitus; psoriasis; inflammatory bowel disease (Crohn's or ulcerative colitis); scleroderma; Sjogren's syndrome; polymyositis; myasthenia gravis; undifferentiated connective tissue disease; and idiopathic thrombocytopenic purpura.

What does participation involve?

To take part in the study, some or all of your relatives will be asked to do the following things:

• Provide a personal and family history, by answering questions over the phone or in person
• Give researchers permission to review medical records related to APS or another autoimmune disease
• Give a blood sample

Other information:

• Taking part is voluntary
• There is no cost to you
• Travel to the study center is not required
• All information is kept strictly confidential
• Taking part will not affect your regular health care

How to Participate:

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

• Duke University Medical Center, Durham NC
  Letitia Talbott
  Clinical Research Coordinator
  Phone: 919-684-6180
  E-mail: letitia.talbott@duke.edu
  
  
• University of North Carolina, Chapel Hill, NC
  Tatiana Quintero-Varca
  Clinical Research Coordinator
  Phone: 919-966-0544
  E-mail: Tatiana_Quintero-Varca@med.unc.edu
  
  
• University of Wisconsin, Madison, WI
  Andrea Jones
  Clinical Research Coordinator
  Phone: 608-263-0517
  E-mail: anj@medicine.wisc.edu
  
  
• Indiana Hemophilia & Thrombosis Center, Indianapolis, IN
  Brandy Trawinski
  Clinical Research Coordinator
  Phone: 317-871-0011 ext. 216
  E-mail: btrawinski@ihtc.org
  
  
• Miami Institute for Human Genomics, Miami, FL
  Judith Pignac-Kobinger
  Clinical Research Coordinator
  Phone: 305-243-8567
  E-mail: jpignac@med.miami.edu
  
  Alain Benitez
  Clinical Research Coordinator
  Phone: 305-243-3744
  E-mail: abenitez4@med.miami.edu

• St. Mary’s Hospital, Waterbury, CT
  Ann Marie Conti-Greco, MD
  Clinical Research Coordinator
  Phone: 203-709-3664
  E-mail: contigreco@yahoo.com

You can learn more and even join our contact registry!