Molecular Mechanisms Characteristics in Systemic Lupus Erythematous Autoimmune Disease (SLE)

Immune Deregulation in Patients With SLE

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.

Study Overview

• Status: Withdrawn
• Conditions: Systemic Lupus Erythematosus

Detailed Description

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 (Table I). Laboratory testing on all blood samples will be done at the Hospital for Special Surgery.

Table I. Site Recruitment1

WCMC Healthy Subjects 20 HSS Subjects with SLE 20 Total 40

• Study Type: Observational

Contacts and Locations

Study Locations

• United States
  • New York
    • New York, New York, United States, 10021
      • Weill Medical College of Cornell University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 65 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Healthy Subjects

Description

Inclusion Criteria:

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

Exclusion Criteria:

If the subject has

• Rheumatic disease
• Diabetes
• SLE or lupus
• Autoimmune disease
• Active infection or pregnancy
• HIV infection

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Weill Medical College of Cornell University
• Collaborators: Hospital for Special Surgery, New York
• Investigators: Principal Investigator: Ronald G Crystal, MD, Department of Genetic Medicine

Study record dates

Study Major Dates

• Study Start: April 1, 2013
• Primary Completion (Actual): October 1, 2016
• Study Completion (Actual): October 1, 2016

Study Registration Dates

• First Submitted: October 16, 2014
• First Submitted That Met QC Criteria: October 20, 2014
• First Posted (Estimate): October 21, 2014

Study Record Updates

• Last Update Posted (Actual): May 24, 2017
• Last Update Submitted That Met QC Criteria: May 23, 2017
• Last Verified: May 1, 2017

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Immune System Diseases; Autoimmune Diseases; Connective Tissue Diseases; Lupus Erythematosus, Systemic
• Other Study ID Numbers: 1311014560

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED