Metabolic Profiling of Immune Responses in Immune-mediated Diseases

March 27, 2024 updated by: National Institute of Allergy and Infectious Diseases (NIAID)

Metabolic Profiling of Immune Responses in Immune-Mediated Diseases

Background:

The immune system is the part of the body that fights infection. Some people have immune deficiencies that cause skin rashes, make them get sick often with infections, or make it difficult for their skin to heal. Researchers want to learn more to better treat conditions that affect immune response.

Objective:

To learn about how the immune system and skin healing are related to each other.

Eligibility:

People ages 18-75 with primary immune deficiency, eczema, or psoriasis. Healthy volunteers are also needed.

Design:

Participants will be screened with a medical and medicine history and a physical exam. They may take a pregnancy test.

Participants will discuss the medicines or supplements they take as well as skin products they use, such as soaps and lotions.

Participants will have up to 4 skin biopsies taken from the forearm. A needle will inject an anesthetic into the skin where the biopsy will be done. A sharp tool that looks like a tiny cookie cutter will be used to remove a round plug of skin a bit smaller than the tip of a pencil.

Participants will give at least 1 blood sample.

Participants may have optional skin swab collection. A cotton swab will be used to swab the skin on the arm.

Participants may have optional skin tape collection. A sticky strip of tape will be placed on the arm and then removed.

Participants may give leftover samples taken as part of their regular medical care.

Participation will last for about 4 days. Participants will have 2 visits that each last about 1 hour. They may be asked to repeat the study in the future.

Study Overview

Status

Recruiting

Conditions

Detailed Description

Study Description:

This is an exploratory sample collection study enrolling adult healthy volunteers and patients with immune-mediated diseases to elucidate the metabolic signatures associated with immune-mediated diseases. We hypothesize that activation of, and responses to, specific immune pathways will require metabolic changes within cells, serum, and skin.

Following screening and baseline procedures, including blood draw, participants will undergo skin biopsies. The skin biopsies will involve up to 4 biopsies: 2 initial punch biopsies 2 mm in diameter, optionally followed by 1 or 2 punch biopsies 3 (+/-1) days later using a 3-mm punch to encompass the initial biopsy site(s), capturing the tissue at 3 days of healing. In addition, skin swabs and tape strips may be collected to assess for microbial or host markers of epithelial repair. Peripheral blood will be collected with the initial biopsies to compare metabolic signatures in peripheral blood cells and serum with those in the skin. After day 1 (or 3, if the participant has that optional visit), participation in the study will be complete. Samples and data will be stored for future research use.

Objectives:

Primary Objectives:

  1. Evaluate metabolic profiles in immune activation associated with known or suspected immune-mediated disorders.
  2. Determine whether there are abnormalities in specific tissue repair pathways, such as epithelial to mesenchymal transition (EMT), that are associated with immune-mediated disorders.

Secondary Objectives:

Not applicable.

Endpoints:

Primary Endpoints:

  1. Fold differences in metabolic pathways associated with immune pathways.
  2. Fold differences in metabolic pathways related to wound healing.
  3. Change in relative abundance of microbial skin taxa and/or skin metabolites associated with wound healing or immune-mediated disorders.

Secondary Endpoints:

Not applicable.

Study Type

Observational

Enrollment (Estimated)

200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • Recruiting
        • National Institutes of Health Clinical Center
        • Contact:
          • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
          • Phone Number: TTY8664111010 800-411-1222
          • Email: prpl@cc.nih.gov

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 75 years (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Probability Sample

Study Population

Healthy volunteers will be recruited through the Clinical Research Volunteer Program. We anticipate that most patient participants will be existing CC participants referred from ongoing NIH protocols;they may also be self-referred through their own initiative or referred by outside physicians.

Description

  • INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

  1. Meets one of the following:

    1. Has documentation of PID confirmed by genetic evaluation demonstrating a deleterious variant in the gene (or genes) known to be associated with immune deficiency (confirmed PID); or
    2. Has documented variant of undetermined significance in a gene (or genes) that is predicted to be deleterious in immune function by the investigators AND a clinical history of infections which are more frequent, more chronic, or more severe than normal (suspected PID); or
    3. Has physician-diagnosed psoriasis; or
    4. Has physician-diagnosed AD; or
    5. Does not have clinically apparent evidence of any monogenic or digenic immune defect, AD, or psoriasis (healthy volunteers).
  2. Aged 18 to 75 years.
  3. Willing to allow storage of blood, biopsy tissue, and bacterial and fungal cultures for future research.
  4. Able to provide informed consent.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

  1. Current or prior (within 3 months) anticoagulant or anti-platelet therapy (other than aspirin or non-steroidal anti-inflammatory drugs).
  2. Current or prior (within 3 months) use of immunomodulatory drugs (eg, chemotherapy, steroids), except if approved by the principal investigator.
  3. History of keloid formation.
  4. Pregnancy, lactating, or breastfeeding.
  5. Any condition that, in the opinion of the investigator, contraindicates participation in the study.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Healthy volunteers
Control group
Patients with atopic dermatitis
Physician-diagnosed atopic dermatitis
Patients with primary immunodeficiency
Confirmed by genetic diagnosis or suspected by genetic variant of unconfirmed significance and a history consistent with immunodeficiency
Patients with psoriasis
Physician-diagnosed psoriasis

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Change in relative abundance of microbial skin taxa and/or skin metabolites associated with wound healing or immune mediated disorders.
Time Frame: Throughout study
Determine whether there are abnormalities in specific tissue repair pathways, such as epithelial to mesenchymal transition (EMT) are associated with immune-mediated disorders.
Throughout study
Fold difference in metabolic pathways associated with immune pathways.
Time Frame: Throughout study
Evaluate metabolic profiles in immune activation associated with known or suspected immune-mediated disorders.
Throughout study
Fold differences in metabolic pathways related to wound healing.
Time Frame: Throughout study
Determine whether there are abnormalities in specific tissue repair pathways, such as epithelial to mesenchymal transition (EMT) are associated with immune-mediated disorders.
Throughout study

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Investigators

  • Principal Investigator: Ian A Myles, M.D., National Institute of Allergy and Infectious Diseases (NIAID)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 10, 2021

Primary Completion (Estimated)

June 30, 2027

Study Completion (Estimated)

June 30, 2027

Study Registration Dates

First Submitted

April 28, 2021

First Submitted That Met QC Criteria

April 28, 2021

First Posted (Actual)

April 29, 2021

Study Record Updates

Last Update Posted (Actual)

March 28, 2024

Last Update Submitted That Met QC Criteria

March 27, 2024

Last Verified

March 26, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 10000392
  • 000392-I

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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