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Lupus Genetics Studies (LFRR)

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00071175
First Posted: October 15, 2003
Last Update Posted: September 18, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborators:
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Oklahoma Medical Research Foundation
  Purpose
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.

Condition
Systemic Lupus Erythematosus

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Retrospective
Official Title: Lupus Genetic Studies; Lupus Family Registry & Repository

Resource links provided by NLM:


Further study details as provided by Oklahoma Medical Research Foundation:

Biospecimen Retention:   Samples With DNA
DNA, sera, plasma, cell lines

Enrollment: 3460
Study Start Date: October 1995
Study Completion Date: November 2013
Primary Completion Date: September 2012 (Final data collection date for primary outcome measure)
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.

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients diagnosed with SLE Families with living members diagnosed with SLE
Criteria

Inclusion Criteria:

  • Families in which one or more living members have been diagnosed with systemic lupus erythematosus
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00071175


Locations
United States, Oklahoma
Oklahoma Medical Research Foundation
Oklahoma City, Oklahoma, United States, 73104
Sponsors and Collaborators
Oklahoma Medical Research Foundation
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Heart, Lung, and Blood Institute (NHLBI)
Investigators
Principal Investigator: John B. Harley, MD, PhD Member & Program Head, Arthritis and Immunology Research Program; Oklahoma Medical Research Foundation
  More Information

Additional Information:
Publications:
Harley JB, Moser KL, Gaffney PM, Behrens TW. The genetics of human systemic lupus erythematosus. Curr Opin Immunol. 1998 Dec;10(6):690-6. Review.
Moser 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.
Rao S, Olson JM, Moser KL, Gray-McGuire C, Bruner GR, Kelly J, Harley JB. Linkage analysis of human systemic lupus erythematosus-related traits: a principal component approach. Arthritis Rheum. 2001 Dec;44(12):2807-18.
Tsao BP, Grossman JM, Riemekasten G, Strong N, Kalsi J, Wallace DJ, Chen CJ, Lau CS, Ginzler EM, Goldstein R, Kalunian KC, Harley JB, Arnett FC, Hahn BH, Cantor RM. Familiality and co-occurrence of clinical features of systemic lupus erythematosus. Arthritis Rheum. 2002 Oct;46(10):2678-85.
Namjou B, Nath SK, Kilpatrick J, Kelly JA, Reid J, James JA, Harley JB. Stratification of pedigrees multiplex for systemic lupus erythematosus and for self-reported rheumatoid arthritis detects a systemic lupus erythematosus susceptibility gene (SLER1) at 5p15.3. Arthritis Rheum. 2002 Nov;46(11):2937-45.
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. Epub 2002 Sep 12.
Heinlen LD, McClain MT, Kim X, Quintero DR, James JA, Harley JB, Scofield RH. Anti-Ro and anti-nRNP response in unaffected family members of SLE patients. Lupus. 2003;12(4):335-7.
Nath SK, Quintero-Del-Rio AI, Kilpatrick J, Feo L, Ballesteros M, Harley JB. Linkage at 12q24 with systemic lupus erythematosus (SLE) is established and confirmed in Hispanic and European American families. Am J Hum Genet. 2004 Jan;74(1):73-82. Epub 2003 Dec 4.
Nath SK, Kilpatrick J, Harley JB. Genetics of human systemic lupus erythematosus: the emerging picture. Curr Opin Immunol. 2004 Dec;16(6):794-800. Review.
Sawalha AH, Harley JB. Antinuclear autoantibodies in systemic lupus erythematosus. Curr Opin Rheumatol. 2004 Sep;16(5):534-40. Review.
Quintero-del-Rio AI, Kelly JA, Garriott CP, Hutchings DC, Frank SG, Aston CE, Harley JB. SLEN2 (2q34-35) and SLEN1 (10q22.3) replication in systemic lupus erythematosus stratified by nephritis. Am J Hum Genet. 2004 Aug;75(2):346-8.
Sawalha AH, Schmid WR, Binder SR, Bacino DK, Harley JB. Association between systemic lupus erythematosus and Helicobacter pylori seronegativity. J Rheumatol. 2004 Aug;31(8):1546-50.
Nath SK, Kelly JA, Harley JB, Scofield RH. Mapping the systematic lupus erythematosus susceptibility genes. Methods Mol Med. 2004;102:11-29. Review.
Nath SK, Namjou B, Garriott CP, Frank S, Joslin PA, Kilpatrick J, Kelly JA, Harley JB. Linkage analysis of SLE susceptibility: confirmation of SLER1 at 5p15.3. Genes Immun. 2004 May;5(3):209-14.
Nath SK, Namjou B, Kilpatrick J, Garriott CP, Bruner GR, Scofield RH, Harley JB. A candidate region on 11p13 for systemic lupus erythematosus: a linkage identified in African-American families. J Investig Dermatol Symp Proc. 2004 Jan;9(1):64-7.
Nath SK, Namjou B, Hutchings D, Garriott CP, Pongratz C, Guthridge J, James JA. Systemic lupus erythematosus (SLE) and chromosome 16: confirmation of linkage to 16q12-13 and evidence for genetic heterogeneity. Eur J Hum Genet. 2004 Aug;12(8):668-72. Erratum in: Eur J Hum Genet. 2004 Aug;12(8):688. James JJ [corrected to James JA].
Lee YH, Harley JB, Nath SK. CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. Hum Genet. 2005 Apr;116(5):361-7. Epub 2005 Feb 2.
Kochi Y, Yamada R, Suzuki A, Harley JB, Shirasawa S, Sawada T, Bae SC, Tokuhiro S, Chang X, Sekine A, Takahashi A, Tsunoda T, Ohnishi Y, Kaufman KM, Kang CP, Kang C, Otsubo S, Yumura W, Mimori A, Koike T, Nakamura Y, Sasazuki T, Yamamoto K. A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Nat Genet. 2005 May;37(5):478-85. Epub 2005 Apr 17. Erratum in: Nat Genet. 2005 Jun;37(6):652.
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. Epub 2006 Jun 7. Review.
Xing 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. Epub 2006 Sep 16.
Harley JB, Kelly JA, Kaufman KM. Unraveling the genetics of systemic lupus erythematosus. Springer Semin Immunopathol. 2006 Oct;28(2):119-30. Epub 2006 Sep 22. Review.
Forabosco P, Gorman JD, Cleveland C, Kelly JA, Fisher SA, Ortmann WA, Johansson C, Johanneson B, Moser KL, Gaffney PM, Tsao BP, Cantor RM, Alarcón-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. Epub 2006 Sep 14.
Scofield RH, Bruner GR, Harley JB, Namjou B. Autoimmune thyroid disease is associated with a diagnosis of secondary Sjögren's syndrome in familial systemic lupus. Ann Rheum Dis. 2007 Mar;66(3):410-3. Epub 2006 Sep 19.
Kaufman 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.
Ramos 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. Epub 2006 Jun 15.
Lee 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.
Nolsøe 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.
Xing 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. Epub 2005 Sep 28.
Lee 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.
Namjou 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.
Sestak 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. Review.

Responsible Party: Oklahoma Medical Research Foundation
ClinicalTrials.gov Identifier: NCT00071175     History of Changes
Other Study ID Numbers: NIAMS-103
5P01AR049084-09 ( U.S. NIH Grant/Contract )
AI24717
AR42460
AR049084
AR52253
AR62277
First Submitted: October 14, 2003
First Posted: October 15, 2003
Last Update Posted: September 18, 2017
Last Verified: September 2017

Keywords provided by Oklahoma Medical Research Foundation:
Lupus
Genetics

Additional relevant MeSH terms:
Lupus Erythematosus, Systemic
Connective Tissue Diseases
Autoimmune Diseases
Immune System Diseases


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