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Pathogenic Wnt-beta catenin target genes in macrophages and fibrosis

  • Study HIC#:2000024862
  • Last Updated:03/06/2024

The purpose of this research study is to better understand the development of systemic sclerosis (SSc)/scleroderma-related lung fibrosis (scarring)/interstitial lung disease (ILD) and how the development of scleroderma lung disease might be associated with scleroderma skin and esophageal disease. Study procedures will include: screening form, blood collection, skin biopsy collection, suture removal, and bronchoscopy.

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    For more information about this study, including how to volunteer, contact:

    Alyssa Williams

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    Trial Purpose and Description

    Our overarching research goal is to determine the role of macrophages in SSc lung, skin and esophageal disease. To achieve our goal, we will collect bronchoalveolar lavage fluid, skin biopsies and in some cases, esophageal biopsies from patients with SSc and from healthy control participants for use in comparative gene expression studies. Patients with SSc with clinically significant ILD (defined as the appearance of chest computed tomography of the chest (HRCT) changes consistent with scleroderma lung disease (i.e., non-specific interstitial pneumonitis/NSIP-presence of ground glass opacities, traction bronchiectasis, subpleural fibrosis, reticular opacities, and/or honeycombing) and with abnormal pulmonary function test results attributed to SSc-ILD (i.e., forced vital capacity % predicted <70) will be recruited from Yale clinics. Age- (within 10y) and sex-matched patients with SSc without clinically significant ILD (defined as normal pulmonary function tests (FVC and DLCO > 80% predicted with chest HRCT exam without evidence for ILD) will be recruited as a control population. Pulmonary function tests and chest HRCT exams are performed as standard of clinical care for patients with SSc. Additionally, healthy age- (within 10y) and sex-matched healthy participants will be recruited as a second control population from the Yale University community.

    Eligibility Criteria

    Inclusion Criteria for Participants with SSc

    • Yale scleroderma/systemic sclerosispatient 
    • Participants must be ≥ 18 years old and meet the 2013 American College of Rheumatology criteria for the diagnosis of systemic sclerosis.
    • Participants who may be receiving clinical care at Yale in the Rheumatology and/or Pulmonary clinics are eligible for study recruitment.

    Exclusion Criteria for Participants with SSc

    • Diagnosis of an overlap syndrome (i.e., SLE, RA, etc.). Overlap with polymyositis and/or Sjogren’s syndrome are permitted.
    • Unable to provide informed consent.
    • Currently pregnant or nursing.
    • Current smoker or former smoker (> 10 pack years)
    • Leukopenia (WBC < 4000 cells/μL)
    •  Anemia (Hg < 8g/dl)
    • Comorbidities of uncontrolled congestive heart failure, cancer, HIV, chronic liver disease
    • Known or suspected infection in the past 3 months
    • BMI ≥ 35 kg/m2
    • Known blood disorders or treatments that may result in excessive bleeding from skin biopsies (hemodialysis, severe thrombocytopenia (platelet count <50,000/µL), supratherapeutic INR from warfarin)
    • Presence of skin diseases that would alter gene expression (psoriasis or morphea) or result in excessive scarring following skin biopsies (h/o keloid formation)
    • History of lung diseases (asthma, emphysema, chronic bronchitis, recurrent pneumonias)
    • Inability to receive midazolam (Versed)   
    • Allergies to lidocaine or epinephrine

    Inclusion Criteria for healthy controls

    • 18 years old
    • No chronic skin conditions
    • No diagnosis of a rheumatic autoimmune disease (i.e., SLE, RA)

    Exclusion Criteria for healthy controls

    • Unable to provide informed consent
    • Currently pregnant or nursing
    • Current smoker 
    • Former smoker (>10 pack years)
    • Comorbidities of lung disease, uncontrolled congestive heart failure, cancer, HIV, or chronic liver disease
    • Known or suspected infection in the past 3 months
    • BMI  ≥ 35 kg/m2
    • Allergies to lidocaine or epinephrine

    Exclusion Criteria for Participants with SSc undergoing research esophageal biopsies

    • Diagnosis of achalasia
    • Diagnosis of esophageal strictures or esophageal cancer
    • Previously undergone a laparoscopic Nissen fundoplication
    • Alcohol abuse
    • Allergy to Fentanyl or Midazolam 


    For more information about this study, including how to volunteer, contact: