Systemic Lupus ErythematosusLFRRNCT00071175
Lupus Genetics Studies
An observational study of Systemic Lupus Erythematosus, run by Oklahoma Medical Research Foundation at 1 site in United States.
Trial summary
The Lupus Genetics Studies and Lupus Family Registry \& Repository are working to find the genes that reveal the causes of systemic lupus erythematosus (SLE, or lupus). The study is enrolling families of all ethnic backgrounds from the United States, Canada, Puerto Rico, and the Virgin Islands that have one or more… Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Systemic Lupus Erythematosus
- How many people
- 3,460 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 1995to Nov 2013
- Phase
- Observational
- Are there results?
- None posted in the registry
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
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients diagnosed with SLE Families with living members diagnosed with SLE
Who may be able to join
- Families in which one or more living members have been diagnosed with systemic lupus erythematosus
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
Oklahoma Medical Research Foundation
Oklahoma City, Oklahoma, 73104
About this study
Official title: Lupus Genetic Studies; Lupus Family Registry & Repository
The Lupus Genetics Studies and Lupus Family Registry \& Repository are working to find the genes that reveal the causes of systemic lupus erythematosus (SLE, or lupus). The study is enrolling families of all ethnic backgrounds from the United States, Canada, Puerto Rico, and the Virgin Islands that have one or more living members diagnosed with SLE.
Read the detailed description
SLE is an often crippling and potentially fatal autoimmune disease that is nine times more prevalent in women than in men, and four times more likely to affect African American females than Caucasian females. It is suspected that a genetic predisposition along with environmental factors contribute to the clinical manifestation of SLE. The Lupus Genetics Studies consist of several familial SLE studies, including the Lupus Family Registry \& Repository (LFRR, formerly known as the Lupus Multiplex Registry \& Repository, or LMRR). The Lupus Studies enroll families of all ethnicities with one or more members diagnosed with systemic lupus to determine what genes contribute to the development of the disease.
Additionally, the Lupus Family Registry \& Repository is the largest repository of its kind in North America. In addition to the research done on site, the Repository serves as a national resource for scientists interested in conducting research on SLE and families either simplex or multiplex for lupus. Data, serum samples, and DNA samples are available to researchers. By collecting families in which two or more living individuals have been diagnosed with SLE, the study is utilizing the genetic link between the affected family members to discover disease-associated genes.
Records will be requested from the patients' treating physicians to document various lupus symptoms and related problems. One-time blood samples will be collected from the patients as well as from certain family members and an unrelated volunteer. There is no cost to participate and the study pays for sample draws and shipping.
- Conditions
- Systemic Lupus Erythematosus
- Keywords
- Lupus, Genetics
- Medical subject headings
- Lupus Erythematosus, Systemic
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Oct 2003 (estimated)
- Study startOct 1995
- Primary completionSep 2012
- Study completionNov 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (31)Papers the sponsor has linked to this study.
- Other trials for Systemic Lupus ErythematosusStudies of the same condition, open and under way.
- 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
- Family based
- Time perspective
- Retrospective
- Enrolment
- 3,460 participants (actual)
Sponsor and investigators
- Lead sponsor
- Oklahoma Medical Research Foundation
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Heart, Lung, and Blood Institute (NHLBI)
- Responsible party
- Sponsor
- Investigators
- John B. Harley, MD, PhD, Principal investigator, Member & Program Head, Arthritis and Immunology Research Program; Oklahoma Medical Research Foundation
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00071175
- Sponsor's protocol ID
- NIAMS-103
- Other IDs
- 5P01AR049084-09, AI24717, AR42460, AR049084, AR52253, AR62277
- Acronym
- LFRR
- Status last verified
- Sep 2017
- First submitted
- 14 Oct 2003
- Last updated
- 18 Sep 2017
- Results posted
- No
- Data monitoring committee
- No
Publications
Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK, Harley JB. The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis. Rheumatology (Oxford). 2007 Jan;46(1):49-56. doi: 10.1093/rheumatology/kel170. Epub 2006 Jun 7.
PubMed 16760194Xing C, Sestak AL, Kelly JA, Nguyen KL, Bruner GR, Harley JB, Gray-McGuire C. Localization and replication of the systemic lupus erythematosus linkage signal at 4p16: interaction with 2p11, 12q24 and 19q13 in European Americans. Hum Genet. 2007 Jan;120(5):623-31. doi: 10.1007/s00439-006-0248-4. Epub 2006 Sep 16.
PubMed 16983533Harley JB, Kelly JA, Kaufman KM. Unraveling the genetics of systemic lupus erythematosus. Springer Semin Immunopathol. 2006 Oct;28(2):119-30. doi: 10.1007/s00281-006-0040-5. Epub 2006 Sep 22.
PubMed 17021721Forabosco P, Gorman JD, Cleveland C, Kelly JA, Fisher SA, Ortmann WA, Johansson C, Johanneson B, Moser KL, Gaffney PM, Tsao BP, Cantor RM, Alarcon-Riquelme ME, Behrens TW, Harley JB, Lewis CM, Criswell LA. Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus. Genes Immun. 2006 Oct;7(7):609-14. doi: 10.1038/sj.gene.6364338. Epub 2006 Sep 14.
PubMed 16971955Scofield RH, Bruner GR, Harley JB, Namjou B. Autoimmune thyroid disease is associated with a diagnosis of secondary Sjogren's syndrome in familial systemic lupus. Ann Rheum Dis. 2007 Mar;66(3):410-3. doi: 10.1136/ard.2006.055103. Epub 2006 Sep 19.
PubMed 16984944Kaufman KM, Kelly JA, Herring BJ, Adler AJ, Glenn SB, Namjou B, Frank SG, Dawson SL, Bruner GR, James JA, Harley JB. Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus. Arthritis Rheum. 2006 Aug;54(8):2533-40. doi: 10.1002/art.21963.
PubMed 16868974Ramos PS, Kelly JA, Gray-McGuire C, Bruner GR, Leiran AN, Meyer CM, Namjou B, Espe KJ, Ortmann WA, Reichlin M, Langefeld CD, James JA, Gaffney PM, Behrens TW, Harley JB, Moser KL. Familial aggregation and linkage analysis of autoantibody traits in pedigrees multiplex for systemic lupus erythematosus. Genes Immun. 2006 Jul;7(5):417-32. doi: 10.1038/sj.gene.6364316. Epub 2006 Jun 15.
PubMed 16775618Lee YH, Harley JB, Nath SK. Meta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibility. Eur J Hum Genet. 2006 Mar;14(3):364-71. doi: 10.1038/sj.ejhg.5201566.
PubMed 16418737Nolsoe RL, Kelly JA, Pociot F, Moser KL, Kristiansen OP, Mandrup-Poulsen T, Harley JB. Functional promoter haplotypes of the human FAS gene are associated with the phenotype of SLE characterized by thrombocytopenia. Genes Immun. 2005 Dec;6(8):699-706. doi: 10.1038/sj.gene.6364259.
PubMed 16163374Xing C, Gray-McGuire C, Kelly JA, Garriott P, Bukulmez H, Harley JB, Olson JM. Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members. Hum Genet. 2005 Dec;118(3-4):309-21. doi: 10.1007/s00439-005-0061-5. Epub 2005 Sep 28.
PubMed 16189706Lee YH, Witte T, Momot T, Schmidt RE, Kaufman KM, Harley JB, Sestak AL. The mannose-binding lectin gene polymorphisms and systemic lupus erythematosus: two case-control studies and a meta-analysis. Arthritis Rheum. 2005 Dec;52(12):3966-74. doi: 10.1002/art.21484.
PubMed 16320344Namjou B, Kelly JA, Kilpatrick J, Kaufman KM, Nath SK, Scofield RH, Harley JB. Linkage at 5q14.3-15 in multiplex systemic lupus erythematosus pedigrees stratified by autoimmune thyroid disease. Arthritis Rheum. 2005 Nov;52(11):3646-50. doi: 10.1002/art.21413.
PubMed 16255059Sestak AL, Nath SK, Harley JB. Genetics of systemic lupus erythematosus: how far have we come? Rheum Dis Clin North Am. 2005 May;31(2):223-44, v. doi: 10.1016/j.rdc.2005.01.005.
PubMed 15922143Harley JB, Moser KL, Gaffney PM, Behrens TW. The genetics of human systemic lupus erythematosus. Curr Opin Immunol. 1998 Dec;10(6):690-6. doi: 10.1016/s0952-7915(98)80090-3.
PubMed 9914226Moser KL, Gray-McGuire C, Kelly J, Asundi N, Yu H, Bruner GR, Mange M, Hogue R, Neas BR, Harley JB. Confirmation of genetic linkage between human systemic lupus erythematosus and chromosome 1q41. Arthritis Rheum. 1999 Sep;42(9):1902-7. doi: 10.1002/1529-0131(199909)42:93.0.CO;2-G.
PubMed 10513806
Study at a glance
From the registry record, last updated by the sponsor on 18 Sep 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Lupus Genetic Studies; Lupus Family Registry & Repository
- ClinicalTrials.gov ID
- NCT00071175
- Acronym / sponsor ID
- LFRR / NIAMS-103
- Conditions
- Systemic Lupus Erythematosus
- Keywords
- Lupus, Genetics
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 3,460 participants (actual)
- Lead sponsor
- Oklahoma Medical Research FoundationUniversity, hospital or other
- Collaborators
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Heart, Lung, and Blood Institute (NHLBI)
- Study start
- Oct 1995
- Primary completion
- Sep 2012 (actual)
- Study completion
- Nov 2013 (actual)
- First posted
- 15 Oct 2003 (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.
The Lupus Genetics Studies and Lupus Family Registry \& Repository are working to find the genes that reveal the causes of systemic lupus erythematosus (SLE, or lupus). The study is enrolling families of all ethnic backgrounds from the United States, Canada, Puerto Rico, and the Virgin Islands that have one or more living members diagnosed with SLE.
Detailed description
SLE is an often crippling and potentially fatal autoimmune disease that is nine times more prevalent in women than in men, and four times more likely to affect African American females than Caucasian females. It is suspected that a genetic predisposition along with environmental factors contribute to the clinical manifestation of SLE. The Lupus Genetics Studies consist of several familial SLE studies, including the Lupus Family Registry \& Repository (LFRR, formerly known as the Lupus Multiplex Registry \& Repository, or LMRR). The Lupus Studies enroll families of all ethnicities with one or more members diagnosed with systemic lupus to determine what genes contribute to the development of the disease.
Additionally, the Lupus Family Registry \& Repository is the largest repository of its kind in North America. In addition to the research done on site, the Repository serves as a national resource for scientists interested in conducting research on SLE and families either simplex or multiplex for lupus. Data, serum samples, and DNA samples are available to researchers. By collecting families in which two or more living individuals have been diagnosed with SLE, the study is utilizing the genetic link between the affected family members to discover disease-associated genes.
Records will be requested from the patients' treating physicians to document various lupus symptoms and related problems. One-time blood samples will be collected from the patients as well as from certain family members and an unrelated volunteer. There is no cost to participate and the study pays for sample draws and shipping.
Study design
- Observational model
- Family based
- Time perspective
- Retrospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients diagnosed with SLE Families with living members diagnosed with SLE
Key inclusion criteria (1 listed)
- Families in which one or more living members have been diagnosed with systemic lupus erythematosus
Key exclusion criteria (0 listed)
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
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Sep 2017.
- Background: PubMed 16760194Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK, Harley JB. The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis. Rheumatology (Oxford). 2007 Jan;46(1):49-56. doi: 10.1093/rheumatology/kel170. Epub 2006 Jun 7.
- Background: PubMed 16983533Xing C, Sestak AL, Kelly JA, Nguyen KL, Bruner GR, Harley JB, Gray-McGuire C. Localization and replication of the systemic lupus erythematosus linkage signal at 4p16: interaction with 2p11, 12q24 and 19q13 in European Americans. Hum Genet. 2007 Jan;120(5):623-31. doi: 10.1007/s00439-006-0248-4. Epub 2006 Sep 16.
- Background: PubMed 17021721Harley JB, Kelly JA, Kaufman KM. Unraveling the genetics of systemic lupus erythematosus. Springer Semin Immunopathol. 2006 Oct;28(2):119-30. doi: 10.1007/s00281-006-0040-5. Epub 2006 Sep 22.
- Background: PubMed 16971955Forabosco P, Gorman JD, Cleveland C, Kelly JA, Fisher SA, Ortmann WA, Johansson C, Johanneson B, Moser KL, Gaffney PM, Tsao BP, Cantor RM, Alarcon-Riquelme ME, Behrens TW, Harley JB, Lewis CM, Criswell LA. Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus. Genes Immun. 2006 Oct;7(7):609-14. doi: 10.1038/sj.gene.6364338. Epub 2006 Sep 14.
- Background: PubMed 16984944Scofield RH, Bruner GR, Harley JB, Namjou B. Autoimmune thyroid disease is associated with a diagnosis of secondary Sjogren's syndrome in familial systemic lupus. Ann Rheum Dis. 2007 Mar;66(3):410-3. doi: 10.1136/ard.2006.055103. Epub 2006 Sep 19.
- Background: PubMed 16868974Kaufman KM, Kelly JA, Herring BJ, Adler AJ, Glenn SB, Namjou B, Frank SG, Dawson SL, Bruner GR, James JA, Harley JB. Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus. Arthritis Rheum. 2006 Aug;54(8):2533-40. doi: 10.1002/art.21963.
- Background: PubMed 16775618Ramos PS, Kelly JA, Gray-McGuire C, Bruner GR, Leiran AN, Meyer CM, Namjou B, Espe KJ, Ortmann WA, Reichlin M, Langefeld CD, James JA, Gaffney PM, Behrens TW, Harley JB, Moser KL. Familial aggregation and linkage analysis of autoantibody traits in pedigrees multiplex for systemic lupus erythematosus. Genes Immun. 2006 Jul;7(5):417-32. doi: 10.1038/sj.gene.6364316. Epub 2006 Jun 15.
- Background: PubMed 16418737Lee YH, Harley JB, Nath SK. Meta-analysis of TNF-alpha promoter -308 A/G polymorphism and SLE susceptibility. Eur J Hum Genet. 2006 Mar;14(3):364-71. doi: 10.1038/sj.ejhg.5201566.
- Background: PubMed 16163374Nolsoe RL, Kelly JA, Pociot F, Moser KL, Kristiansen OP, Mandrup-Poulsen T, Harley JB. Functional promoter haplotypes of the human FAS gene are associated with the phenotype of SLE characterized by thrombocytopenia. Genes Immun. 2005 Dec;6(8):699-706. doi: 10.1038/sj.gene.6364259.
- Background: PubMed 16189706Xing C, Gray-McGuire C, Kelly JA, Garriott P, Bukulmez H, Harley JB, Olson JM. Genetic linkage of systemic lupus erythematosus to 13q32 in African American families with affected male members. Hum Genet. 2005 Dec;118(3-4):309-21. doi: 10.1007/s00439-005-0061-5. Epub 2005 Sep 28.
- Background: PubMed 16320344Lee YH, Witte T, Momot T, Schmidt RE, Kaufman KM, Harley JB, Sestak AL. The mannose-binding lectin gene polymorphisms and systemic lupus erythematosus: two case-control studies and a meta-analysis. Arthritis Rheum. 2005 Dec;52(12):3966-74. doi: 10.1002/art.21484.
- Background: PubMed 16255059Namjou B, Kelly JA, Kilpatrick J, Kaufman KM, Nath SK, Scofield RH, Harley JB. Linkage at 5q14.3-15 in multiplex systemic lupus erythematosus pedigrees stratified by autoimmune thyroid disease. Arthritis Rheum. 2005 Nov;52(11):3646-50. doi: 10.1002/art.21413.
- Lupus Family Registry \& Repository Webpage: For potential participants and researchersLink provided by the sponsor.
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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. This study is not recruiting at the moment.
John B. Harley, MD, PhD principal investigator
Member & Program Head, Arthritis and Immunology Research Program; Oklahoma Medical Research Foundation
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 Systemic Lupus Erythematosus, run by Oklahoma Medical Research Foundation 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 1 inclusion and 0 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: finished, as of the sponsor's last update on 18 Sep 2017. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00071175, which also lists 31 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 18 Sep 2017.