Antiphospholipid SyndromeAPSNCT00482794
Genetic Risk Factors Associated With Antiphospholipid Antibody Syndrome
An observational study of Antiphospholipid Syndrome, run by Duke University at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Antiphospholipid Syndrome
- How many people
- 2,800 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2006to Mar 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Individuals with antiphospholipid antibody syndrome and their family members
Who may be able to join
- 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
Who cannot join
- No documented presence of antiphospholipid antibody
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Duke University Medical Center
Durham, North Carolina, 27710
Thomas L. Ortel, MD, PhD
Silke Schmidt, PhD
About this study
Official title: Genetics of Antiphospholipid Antibody Syndrome
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.
Read the detailed description
APS is an autoimmune disorder that causes an increased risk for developing a venous or arterial thromboembolism, as well as recurrent miscarriages. APS frequently occurs in people with lupus, and is referred to as secondary APS in this case. Many people who have APS, however, do not have another autoimmune disorder, and their disease is referred to as primary APS. APS may be a genetic disorder, and identifying the gene(s) that predisposes an individual to develop it could lead to a better understanding of the disease, as well as improved therapies. This study will use a genetic strategy to identify potential risk factors for the development of APS by recruiting people with APS who have family members who are either affected by the syndrome or who have another autoimmune disorder. The results of the genetic testing will be compared among the following two groups of families: people with APS who also have one or more of their family members affected specifically by APS; and people 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.
Participants in this study will perform a pre-screening questionnaire over the phone to determine relevant clinical diagnoses and collect a brief family history of autoimmune disorders. Eligible participants will receive an enrollment package in the mail. If possible, participants will then report to the study site to supply a detailed family and medical history and provide a blood sample for analysis for antiphospholipid antibodies and preparation of genomic DNA. If participants are unable to attend the study visit, the interviews will be conducted over the phone. Those who are unable to attend the site visit will receive a blood enrollment kit in the mail, and these participants will report to a convenient location for phlebotomy services. Participants who have already provided blood samples for the APS Collaborative Registry (APSCORE) may not have to provide another sample for this study. Information collected for statistical analysis will include the following data: demographic information; co-morbid conditions and chronic risk factors; lipid profile; history of recurrent infections, renal failure, and cardiovascular disease; height and weight; details of any medications and supplements currently being taken; venous and arterial thromboembolic events; and any history of adverse pregnancy outcomes.
- Conditions
- Antiphospholipid Syndrome
- Keywords
- Antiphospholipid Antibody Syndrome
- Medical subject headings
- Antiphospholipid Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
characterize genetic risk factors associated with the development of familial antiphospholipid antibody syndrome.
Measured: duration of the study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Jun 2007 (estimated)
- Study startJun 2006
- Primary completionMar 2029 (estimated)
- Study completionMar 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Antiphospholipid SyndromeStudies of the same condition, open and under way.
- More trials run by Duke UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 2,800 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Duke University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Thomas L. Ortel, MD, PhD, Principal investigator, Duke University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00482794
- Sponsor's protocol ID
- Pro00013845
- Acronym
- APS
- Status last verified
- May 2026
- First submitted
- 1 Jun 2007
- Last updated
- 29 May 2026
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
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.
PubMed 11882732Cervera 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.
PubMed 11953980Scofield 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.
PubMed 12393658Kelly 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.
PubMed 12192084Ortel 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.
PubMed 16475047
Study at a glance
From the registry record, last updated by the sponsor on 29 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetics of Antiphospholipid Antibody Syndrome
- ClinicalTrials.gov ID
- NCT00482794
- Acronym / sponsor ID
- APS / Pro00013845
- Conditions
- Antiphospholipid Syndrome
- Keywords
- Antiphospholipid Antibody Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 2,800 participants (estimated)
- Lead sponsor
- Duke UniversityUniversity, hospital or other
- Study start
- Jun 2006
- Primary completion
- Mar 2029 (estimated)
- Study completion
- Mar 2029 (estimated)
- First posted
- 5 Jun 2007 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
APS is an autoimmune disorder that causes an increased risk for developing a venous or arterial thromboembolism, as well as recurrent miscarriages. APS frequently occurs in people with lupus, and is referred to as secondary APS in this case. Many people who have APS, however, do not have another autoimmune disorder, and their disease is referred to as primary APS. APS may be a genetic disorder, and identifying the gene(s) that predisposes an individual to develop it could lead to a better understanding of the disease, as well as improved therapies. This study will use a genetic strategy to identify potential risk factors for the development of APS by recruiting people with APS who have family members who are either affected by the syndrome or who have another autoimmune disorder. The results of the genetic testing will be compared among the following two groups of families: people with APS who also have one or more of their family members affected specifically by APS; and people 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.
Participants in this study will perform a pre-screening questionnaire over the phone to determine relevant clinical diagnoses and collect a brief family history of autoimmune disorders. Eligible participants will receive an enrollment package in the mail. If possible, participants will then report to the study site to supply a detailed family and medical history and provide a blood sample for analysis for antiphospholipid antibodies and preparation of genomic DNA. If participants are unable to attend the study visit, the interviews will be conducted over the phone. Those who are unable to attend the site visit will receive a blood enrollment kit in the mail, and these participants will report to a convenient location for phlebotomy services. Participants who have already provided blood samples for the APS Collaborative Registry (APSCORE) may not have to provide another sample for this study. Information collected for statistical analysis will include the following data: demographic information; co-morbid conditions and chronic risk factors; lipid profile; history of recurrent infections, renal failure, and cardiovascular disease; height and weight; details of any medications and supplements currently being taken; venous and arterial thromboembolic events; and any history of adverse pregnancy outcomes.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Individuals with antiphospholipid antibody syndrome and their family members
Key inclusion criteria (8 listed)
- Persistent presence of an antiphospholipid antibody, as defined by one or both of the following criteria:
- 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:
- 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
Key exclusion criteria (1 listed)
- No documented presence of antiphospholipid antibody
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
characterize genetic risk factors associated with the development of familial antiphospholipid antibody syndrome.
Time frame: duration of the study
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 May 2026.
- Background: PubMed 11882732Levine 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.
- Background: PubMed 11953980Cervera 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.
- Background: PubMed 12393658Scofield 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.
- Background: PubMed 12192084Kelly 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.
- Background: PubMed 16475047Ortel 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Thomas L. Ortel, MD, PhD principal investigator
Duke University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Antiphospholipid Syndrome, run by Duke University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 29 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Thomas L. Ortel, MD, PhD (919-684-5350, thomas.ortel@duke.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
characterize genetic risk factors associated with the development of familial antiphospholipid antibody syndrome. (time frame: duration of the study). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00482794, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 May 2026.