Molecular Mechanisms Characteristics in Systemic Lupus Erythematous Autoimmune Disease

NCT02270710 | Withdrawn

• 1 other identifier: 1311014560
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

Brief Summary

It is well known that the deregulation of immune responses plays a major role in many autoimmune diseases, such as Systemic Lupus Erythematosus (SLE). The main objective of this protocol is to determine whether the expression and/or function of specific molecules are deregulated in the immune cells of patients with SLE. By examining IRF4, IRF5, IBP/Def6, SWAP-70, Rock1, Rock2, and specific signaling molecules involved in the responsiveness to sex hormones, the investigators hypothesize that the deregulation in the expression and function of these molecules will result in abnormalities in the functioning of the immune cells, which is a key factor in autoimmunity. Peripheral blood lymphocytes from healthy controls and patients with SLE will be collected and compared in order to determine if specific immune cells (IL-17 and IL-21) are deregulated in patients with SLE and if this deregulation affects their functioning. Specifically, immune cells will be isolated from the blood and then subject to scientific testing (QPCR, Western blotting, immunofluorescence assays, ELISA and FACS analysis) to see if the expression and function of these cells is related to the mechanism behind SLE. This will be a case control study, where cases of SLE will be compared to controls of healthy volunteers to assess risk factors. As these healthy volunteers are providing samples solely for research purposes, there is no standard of care for these volunteers, with the exception of a positive HIV result during screening. The Department of Genetic Medicine will enroll healthy controls and the Hospital for Special Surgery will enroll subjects with Systemic Lupus Erythematosus (SLE) for a comparative analysis of the two cohorts. Laboratory testing on all blood samples will be done at the Hospital for Special Surgery.

Conditions

Systemic Lupus Erythematosus

Outcome Measures

Primary Outcomes (1)

• Determine the molecules that play a role in onset of SLE and autoimmune disease

  Immune cells isolated from blood samples of healthy and SLE subjects IRF4, IRF5, IBP/Def6, SWAP-70, Rock1, Rock2 molecules expression examined through scientific testing (QPCR, Western blotting, immunofluorescence assays, ELISA and FACS analysis)

  1 year

Study Arms (2)

Healthy Subjects

Overall in good health Provide informed consent Male and females, age 18 years and older Nonsmokers

SLE Subjects

Enrolled by Hospital for Special Surgery Diagnosed with Systemic Lupus Erythematosus

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Healthy Subjects

You may qualify if:

• Must provide informed consent
• Males and females, age 18 years and older
• Healthy Nonsmokers

You may not qualify if:

• If the subject has
• Rheumatic disease
• Diabetes
• SLE or lupus
• Autoimmune disease
• Active infection or pregnancy
• HIV infection

Sponsors & Collaborators

• Weill Medical College of Cornell University: lead
• Hospital for Special Surgery, New York: collaborator

Study Sites (1)

Weill Medical College of Cornell University

New York, New York, 10021, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood

MeSH Terms

Conditions

Lupus Erythematosus, Systemic

Condition Hierarchy (Ancestors)

Connective Tissue Diseases; Skin and Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases

Study Officials

• Ronald G Crystal, MD

  Department of Genetic Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 16, 2014
• First Posted: October 21, 2014
• Study Start: April 1, 2013
• Primary Completion: October 1, 2016
• Study Completion: October 1, 2016
• Last Updated: May 24, 2017

Record last verified: 2017-05

Locations

US (1)