Identifying genetic risk factors for Antiphospholipid Syndrome
Official title: Genetics of Antiphospholipid Antibody Syndrome
Run by Duke University · NCT00482794 · Data updated 2026-11-12
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 |
|---|---|
| Sex | All |
| Enrollment | 2800 (estimated) |
| Sponsor | Duke University Academic / other |
| Locations | 1 site (Durham, North Carolina) |
| Status | Recruiting |
| Started | June 2006 |
| Main results expected | March 2029 |
| Study ends | March 2029 |
| Registry record updated | May 29, 2026 |
| Trial ID | NCT00482794 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with Antiphospholipid Syndrome who have family members affected by APS or another autoimmune disorder.
✕Probably not a fit
Patients without a diagnosis of Antiphospholipid Syndrome or those without family history of autoimmune disorders may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: While genetic studies in autoimmune disorders have shown promise, this specific approach to APS is relatively novel and untested.
Who can join: the full rules
Show full inclusion / exclusion 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 it's running
-
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
- Email: thomas.ortel@duke.edu
- Phone: 919-684-5350
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Thrombocytopenia Trajectories in antiphospholipid syndrome
This study tests whether patterns in platelet counts over time can predict outcomes for adults with antiphospholipid syndrome.
-
BCT301 CAR-iT cell therapy for hard-to-treat autoimmune diseases
This early‑phase study tests whether off-the-shelf BCT301 CAR-iT cells can be given safely to adults with refractory autoimmune diseases to see if they can be tolerated and what dose works best.
-
Characterization of Autoreactive B Cells in Autoimmune Diseases and Immune Deficiencies
Researchers are testing to see how autoreactive B cells behave in people with autoimmune diseases or immune deficiencies to better understand how these cells may contribute to disease.
-
YTS109 cell therapy for relapsed or treatment‑resistant autoimmune diseases
This will try a single infusion of YTS109 immune cells in adults 18–65 with relapsed or treatment‑resistant autoimmune diseases such as lupus, Sjogren’s, systemic sclerosis, inflammatory myopathies, or ANCA‑associated vasculitis.
-
YTS109 cell therapy for relapsed or refractory autoimmune diseases
This will try a single infusion of YTS109 immune cells to see if they are safe and help adults 18–65 with relapsed or refractory lupus (including lupus nephritis), Sjogren's syndrome, inflammatory myopathy, or ANCA‑associated vasculitis.
-
Antiphospholipid syndrome in people 65 and older who had an ischemic stroke
This study will test whether routine blood testing for antiphospholipid antibodies in people aged 65 and over hospitalized with ischemic stroke or TIA can identify previously unrecognized antiphospholipid syndrome.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.