Evaluating X-Chromosome Inactivation Maintenance in a Cross-sectional Cohort of Patients with Systemic Sclerosis

CURRENTLY ENROLLING: YES

 

The goal of this study is to understand why scleroderma, like other “autoimmune diseases”, affects women more commonly than men. We hope that this study could eventually lead to an improved understanding of the cause of scleroderma, and accordingly, new types of treatment.

NO. You do not have to take a medication for the study.

We are studying how the immune system receives instructions from the X-chromosome in patients with scleroderma, and how these instructions could facilitate the inflammation and scarring that we see in scleroderma.

Humans have 23 pairs of chromosomes, and one pair of these 23 pairs refers to the “sex” chromosomes. Women’s sex chromosomes consist of two X-chromosomes, whereas men’s sex chromosomes consist of only one X-chromosome and one Y-chromosome. Thus, women have twice the number of X-chromosomes as men. The chromosomes provide each part of our body with instructions about how to function.

In order to prevent information-overload from the X-chromosome in women, one of the two is randomly turned off before birth. Because the immune system receives many instructions from the X-chromosome, we have wondered whether the X-chromosome that was initially turned off somehow gets partially reactivated such that the immune systems of women with scleroderma are actually receiving instructions from more than one X-chromosome. We are interested in learning if this dysregulated process could be promoting the inflammation and scarring that we see in scleroderma.

  • Men and women over the age of 18 with scleroderma AND without another autoimmune disease, cancer, or an active infection.
  • Men and women over the age of 18 without scleroderma, other autoimmune diseases, infections, or cancer.

Your direct participation in the study only involves a one-time blood draw and one approximately 5-minute physical examination performed during your doctor’s visit. However, it is possible that the study team may contact you again in the event that they require another blood sample. This would require another similar brief physical examination (again, less than 5 minutes) during your next visit with the Penn Scleroderma Center.

  1. You will be asked to undergo a very brief physical examination during your doctor’s visit (less than 5 minutes total).
  2. You will also be asked to undergo one blood draw of approximately 3.5 tablespoons.
  3. The study team may review your medical record to obtain additional information about your disease and how it affects your body.
  4. Finally, it is possible that the study team may contact you again in the event that they require another blood sample. This would require another similar brief physical examination (less than 5 minutes) during your next visit with the Penn Scleroderma Center.

Thank you for your interest! If you wish to learn more and sign up for the study, please contact:

LAUREN BAKER
nikhil.jiwrajka@pennmedicine.upenn.edu