Clinical trial NCT00071175: Lupus Genetics Studies
Official title: Lupus Genetic Studies; Lupus Family Registry & Repository
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Systemic Lupus Erythematosus
Keywords: Lupus
Genetics
Lead sponsor: Oklahoma Medical Research Foundation
Sponsor class: OTHER
Collaborators: name: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
name: National Heart, Lung, and Blood Institute (NHLBI)
First posted: 2003-10-15
Enrollment: 3460
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: FAMILY_BASED
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients diagnosed with SLE Families with living members diagnosed with SLE

Brief 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 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.

Eligibility criteria: Inclusion Criteria:

* Families in which one or more living members have been diagnosed with systemic lupus erythematosus

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Oklahoma City
country: United States
facility: Oklahoma Medical Research Foundation
state: Oklahoma
Study officials:
affiliation: Member & Program Head, Arthritis and Immunology Research Program; Oklahoma Medical Research Foundation
name: John B. Harley, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
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citation: 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. doi: 10.1007/s00439-006-0248-4. Epub 2006 Sep 16.
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