Identifying genetic risk factors for Antiphospholipid Syndrome

Genetics of Antiphospholipid Antibody Syndrome

This study is trying to find out if certain genes make people more likely to get Antiphospholipid Syndrome by looking at families where multiple members have APS or other autoimmune diseases.

Quick facts

• Study type: Observational
• Enrollment: 2800 (estimated)
• Sex: All
• Sponsor: Duke University (Academic / other)
• Locations: 1 site (Durham, North Carolina)
• Trial ID: NCT00482794 on ClinicalTrials.gov

What this trial studies

This study aims to explore the genetic predisposition to Antiphospholipid Syndrome (APS) by recruiting individuals diagnosed with APS who have family members also affected by APS or other autoimmune disorders. Participants will complete a pre-screening questionnaire to gather clinical diagnoses and family history of autoimmune conditions. The study will compare genetic risk factors between families with APS and those with other autoimmune disorders, potentially leading to a better understanding of APS and improved therapies.

Who should consider this trial

Good fit: Ideal candidates include individuals diagnosed with Antiphospholipid Syndrome who have family members affected by APS or another autoimmune disorder.

Not a fit: Patients without a diagnosis of Antiphospholipid Syndrome or those without family history of autoimmune disorders may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to enhanced understanding and treatment options for patients with Antiphospholipid Syndrome.

How similar studies have performed: While genetic studies in autoimmune disorders have shown promise, this specific approach to APS is relatively novel and untested.

Eligibility criteria

Inclusion Criteria:

* Persistent presence of an antiphospholipid antibody, as defined by one or both of the following criteria:

  1. Medium or high anticardiolipin antibody level in the blood on two or more occasions at least 6 weeks apart
  2. 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:

  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 direct examination or the fetus
  2. 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
  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
* 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

Exclusion Criteria:

* No documented presence of antiphospholipid antibody

Where this trial is running

Durham, North Carolina

• Duke University Medical Center — Durham, North Carolina, United States (Recruiting)

Study contacts

• Principal investigator: Thomas L. Ortel, MD, PhD — Duke University
• Study coordinator: Thomas L. Ortel, MD, PhD

Conditions Antiphospholipid Syndrome; Antiphospholipid Antibody Syndrome