Genetic Study of Lupus Patients and Their Families

NCT ID: NCT00235378

Last Updated: 2015-10-15

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

2356 participants

Study Classification

OBSERVATIONAL

Study Start Date

1996-07-31

Study Completion Date

2013-03-31

Brief Summary

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The purpose of this study is to perform genetic testing in and to collect information from families affected by lupus in order to identify the genetic factors associated with systemic lupus erythematosus (SLE).

Detailed Description

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Little is known about the genetic factors that predispose people to developing SLE. Genes in patients with SLE may provide clues about SLE's pathogenesis. This study will compare genes from SLE patients, their unaffected family members, and control participants. Travel to the study site is not required.

In this study, blood samples will be collected from people diagnosed with SLE, their unaffected family members, and condition-matched controls. Participants will be asked questions about their health and will provide a small blood sample. Participants will also be asked to provide written permission for release of medical information, so that their disease status can be verified through medical record review or through consultation with their doctors. Study personnel may contact participants in the future for follow-up questions and additional blood draws, if the participant agrees.

Conditions

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Systemic Lupus Erythematosus

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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1

SLE patients

No interventions assigned to this group

2

Unaffected family members of SLE patients

No interventions assigned to this group

3

Control participants

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Diagnosis of SLE OR a family member of participant diagnosed with SLE

Exclusion Criteria

* Pregnancy or breastfeeding
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

NIH

Sponsor Role collaborator

Oklahoma Medical Research Foundation

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Timothy W. Behrens, MD

Role: PRINCIPAL_INVESTIGATOR

University of Minnesota

Patrick Gaffney

Role: PRINCIPAL_INVESTIGATOR

University of Minnesota

Locations

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University of Minnesota

Minneapolis, Minnesota, United States

Site Status

Countries

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United States

References

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Baechler EC, Batliwalla FM, Karypis G, Gaffney PM, Ortmann WA, Espe KJ, Shark KB, Grande WJ, Hughes KM, Kapur V, Gregersen PK, Behrens TW. Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci U S A. 2003 Mar 4;100(5):2610-5. doi: 10.1073/pnas.0337679100. Epub 2003 Feb 25.

Reference Type BACKGROUND
PMID: 12604793 (View on PubMed)

Gillett CD, Langefeld CD, Williams AH, Ortmann WA, Graham RR, Rodine PR, Selby SA, Gaffney PM, Behrens TW, Moser KL. Fine mapping chromosome 16q12 in a collection of 231 systemic lupus erythematosus sibpair and multiplex families. Genes Immun. 2005 Feb;6(1):19-23. doi: 10.1038/sj.gene.6364145.

Reference Type BACKGROUND
PMID: 15538391 (View on PubMed)

Graham RR, Ortmann WA, Langefeld CD, Jawaheer D, Selby SA, Rodine PR, Baechler EC, Rohlf KE, Shark KB, Espe KJ, Green LE, Nair RP, Stuart PE, Elder JT, King RA, Moser KL, Gaffney PM, Bugawan TL, Erlich HA, Rich SS, Gregersen PK, Behrens TW. Visualizing human leukocyte antigen class II risk haplotypes in human systemic lupus erythematosus. Am J Hum Genet. 2002 Sep;71(3):543-53. doi: 10.1086/342290. Epub 2002 Jul 26.

Reference Type BACKGROUND
PMID: 12145745 (View on PubMed)

Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, Behrens TW. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet. 2004 Sep;75(3):504-7. doi: 10.1086/423790. Epub 2004 Jul 23.

Reference Type BACKGROUND
PMID: 15273934 (View on PubMed)

Wakeland EK, Liu K, Graham RR, Behrens TW. Delineating the genetic basis of systemic lupus erythematosus. Immunity. 2001 Sep;15(3):397-408. doi: 10.1016/s1074-7613(01)00201-1.

Reference Type BACKGROUND
PMID: 11567630 (View on PubMed)

Other Identifiers

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R01AR043274

Identifier Type: NIH

Identifier Source: secondary_id

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R01AR043274

Identifier Type: NIH

Identifier Source: org_study_id

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