Genetic Risk Factors Associated With Antiphospholipid Antibody Syndrome

NCT00482794 | Recruiting

• 1 other identifier: Pro00013845
• Study Type: observational
• Target: 2,800
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Antiphospholipid Syndrome

Keywords

Antiphospholipid Antibody Syndrome

Outcome Measures

Primary Outcomes (1)

• characterize genetic risk factors associated with the development of familial antiphospholipid antibody syndrome.

  duration of the study

Study Arms (3)

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with antiphospholipid antibody syndrome and their family members

You may qualify if:

• Persistent presence of an antiphospholipid antibody, as defined by one or both of the following criteria:
• Medium or high anticardiolipin antibody level in the blood on two or more occasions at least 6 weeks apart
• 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:
• 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
• 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
• 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

You may not qualify if:

• No documented presence of antiphospholipid antibody

Sponsors & Collaborators

• Duke University: lead

Study Sites (1)

Duke University Medical Center

Durham, North Carolina, 27710, United States

RECRUITING

Related Publications (5)

• Levine JS, Branch DW, Rauch J. The antiphospholipid syndrome. N Engl J Med. 2002 Mar 7;346(10):752-63. doi: 10.1056/NEJMra002974. No abstract available.

  PMID: 11882732 BACKGROUND

• Cervera R, Piette JC, Font J, Khamashta MA, Shoenfeld Y, Camps MT, Jacobsen S, Lakos G, Tincani A, Kontopoulou-Griva I, Galeazzi M, Meroni PL, Derksen RH, de Groot PG, Gromnica-Ihle E, Baleva M, Mosca M, Bombardieri S, Houssiau F, Gris JC, Quere I, Hachulla E, Vasconcelos C, Roch B, Fernandez-Nebro A, Boffa MC, Hughes GR, Ingelmo M; Euro-Phospholipid Project Group. Antiphospholipid syndrome: clinical and immunologic manifestations and patterns of disease expression in a cohort of 1,000 patients. Arthritis Rheum. 2002 Apr;46(4):1019-27. doi: 10.1002/art.10187.

  PMID: 11953980 BACKGROUND

• Scofield RH, Bruner GR, Kelly JA, Kilpatrick J, Bacino D, Nath SK, Harley JB. Thrombocytopenia identifies a severe familial phenotype of systemic lupus erythematosus and reveals genetic linkages at 1q22 and 11p13. Blood. 2003 Feb 1;101(3):992-7. doi: 10.1182/blood-2002-04-1003. Epub 2002 Sep 12.

  PMID: 12393658 BACKGROUND

• Kelly JA, Thompson K, Kilpatrick J, Lam T, Nath SK, Gray-McGuire C, Reid J, Namjou B, Aston CE, Bruner GR, Scofield RH, Harley JB. Evidence for a susceptibility gene (SLEH1) on chromosome 11q14 for systemic lupus erythematosus (SLE) families with hemolytic anemia. Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11766-71. doi: 10.1073/pnas.182162399. Epub 2002 Aug 21.

  PMID: 12192084 BACKGROUND

• Ortel TL. The antiphospholipid syndrome: what are we really measuring? How do we measure it? And how do we treat it? J Thromb Thrombolysis. 2006 Feb;21(1):79-83. doi: 10.1007/s11239-006-5581-x.

  PMID: 16475047 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Serum, plasma, and DNA samples

MeSH Terms

Conditions

Antiphospholipid Syndrome

Condition Hierarchy (Ancestors)

Autoimmune Diseases; Immune System Diseases

Study Officials

• Thomas L. Ortel, MD, PhD

  Duke University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Thomas L. Ortel, MD, PhD

CONTACT

919-684-5350; thomas.ortel@duke.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 1, 2007
• First Posted: June 5, 2007
• Study Start: June 1, 2006
• Primary Completion (Estimated): March 1, 2028
• Study Completion (Estimated): March 1, 2028
• Last Updated: March 19, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)