Characteristics and Disease Progression of Mixed Connective Tissue Disease and Systemic Lupus Erythematosus

Immune Response to Small Nuclear Ribonucleoprotein Autoantigens

Systemic lupus erythematosus (SLE) and mixed connective tissue disease (MCTD) are long-term autoimmune diseases in which the immune system attacks parts of the body. The abnormal immune reaction causes inflammation of and damage to various body parts and can affect joints, skin, kidneys, heart, lungs, blood vessels, and the brain. SLE and MCTD often affect young women, especially black and Hispanic women, and there is no known cure. Knowing more about SLE and MCTD will help in developing new and effective treatments. The purpose of this study is to characterize immune system abnormalities, genetic components, and disease progression in people with SLE and MCTD.

Study Overview

• Status: Completed
• Conditions: Systemic Lupus Erythematosus (SLE); Mixed Connective Tissue Disease (MCTD)

Detailed Description

Systemic lupus erythematosus (SLE) is an autoimmune disease in which the immune system produces antibodies against the body's healthy cells and tissues. These antibodies, called autoantibodies, contribute to the inflammation of various parts of the body and can cause damage to organs and tissues. Mixed connective tissue disease (MCTD) is another autoimmune disease that overlaps in terms of signs and symptoms with three other connective tissue diseases, including SLE. In both SLE and MCTD, the immune system appears to be abnormally activated by small nuclear ribonucleoprotein (snRNP) autoantigens. Furthermore, lung tissue, in particular, appears to be affected by the immune response induced by snRNP autoantigens. The causes of SLE and MCTD remain unknown. However, it is likely that a combination of genetic, environmental, and possibly hormonal factors work together to cause the diseases. Past studies suggest that several different genes may be involved in determining a person's likelihood of developing SLE or MCTD, which tissues and organs are affected, and the severity of the disease. The purpose of this study is to characterize immune system abnormalities, genetic components, and disease progression in people with SLE and MCTD.

Participants will attend up to four study visits, at intervals of at least 3 months, over the course of this study. Each study visit will include questionnaires, a physical exam, and possibly blood and/or urine collection. At the end of the study period, participants may choose to continue or discontinue participation.

• Study Type: Observational
• Enrollment (Actual): 124

Contacts and Locations

Study Locations

• United States
  • Florida
    • Miami, Florida, United States, 33136
      • University of Miami Miller School of Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 100 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), mixed connective tissue disease (MCTD) or undifferentiated connective tissue disease (UCTD)

Description

Inclusion Criteria:

• Patients with known rheumatic diseases including systemic lupus erythematosus, rheumatoid arthritis, connective tissue disease, undifferentiated connective tissue disease

Exclusion Criteria:

• Poor venous access, unstable medical problems or significant cardiopulmonary disease, anemia, leukopenia, thrombocytopenia, anticoagulation therapy, recent significant changes in medication or pregnacy. Patient cannot be taking large dose of corticosteroids (above 30mg per day) or cytotoxic drugs (cyclophosphamide, azathiprine, cyclosporine, methotrexate).

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Data characterizing immune cell responses and corresponding clinical data	Up to 4 visits at intervals of at least 3 months.
Phenotype measurement to include disease activity, disease severity, and functional status	up to 4 visits at intervals of at least 3 months

Collaborators and Investigators

• Sponsor: University of Miami
• Collaborators: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Investigators: Principal Investigator: Eric L. Greidinger, MD, University of Miami

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2007
• Primary Completion (Actual): June 27, 2025
• Study Completion (Actual): June 27, 2025

Study Registration Dates

• First Submitted: December 19, 2007
• First Submitted That Met QC Criteria: December 19, 2007
• First Posted (Estimated): December 28, 2007

Study Record Updates

• Last Update Posted (Actual): March 19, 2026
• Last Update Submitted That Met QC Criteria: March 17, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: SLE; Anti-RNP/Sm Autoantibody-Positive; MCTD
• Additional Relevant MeSH Terms: Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases; Skin and Connective Tissue Diseases; Lupus Erythematosus, Systemic; Mixed Connective Tissue Disease
• Other Study ID Numbers: 20030724; 5R01AR043308-16 (U.S. NIH Grant/Contract); 5R01AR043308-14 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No