Metabolic Profiling of Immune Responses in Immune-mediated Diseases
2 other identifiers
observational
300
1 country
1
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Aug 2021
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
April 28, 2021
CompletedFirst Posted
Study publicly available on registry
April 29, 2021
CompletedStudy Start
First participant enrolled
August 10, 2021
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 30, 2027
ExpectedStudy Completion
Last participant's last visit for all outcomes
June 30, 2027
May 29, 2026
January 14, 2026
5.9 years
April 28, 2021
May 28, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (3)
Change in relative abundance of microbial skin taxa and/or skin metabolites associated with wound healing or immune mediated disorders.
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.
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.
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
Study Arms (4)
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
Eligibility Criteria
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.
You may qualify if:
- In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- Meets one of the following:
- 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
- Has documented variant of undetermined significance in a gene (or genes) that is predicted to be deleterious in immune function by the investigators OR a clinical history of infections which are more frequent, more chronic, or more severe than normal (suspected PID); or
- Has physician-diagnosed psoriasis; or
- Has physician-diagnosed AD; or
- Does not have clinically apparent evidence of any monogenic or digenic immune defect, AD, or psoriasis (healthy volunteers).
- Aged 18 to 75 years.
- Willing to allow storage of blood, biopsy tissue, bacterial and fungal cultures, and any other samples collected for future research.
- Able to provide informed consent.
You may not qualify if:
- An individual who meets any of the following criteria will be excluded from participation in this study:
- Current or prior (within 3 months) anticoagulant or anti-platelet therapy (other than aspirin or non-steroidal anti-inflammatory drugs).
- Current or prior (within 3 months) use of immunomodulatory drugs (eg, chemotherapy, steroids), except if approved by the principal investigator.
- History of keloid formation.
- Pregnancy, lactating, or breastfeeding.
- Any condition that, in the opinion of the investigator, contraindicates participation in the study.
- Co-enrollment guidelines: Participants may be co-enrolled in other studies; however, study staff should be notified of co-enrollment.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Related Publications (3)
McCann KJ, Yadav M, Alishahedani ME, Freeman AF, Myles IA. Differential responses to folic acid in an established keloid fibroblast cell line are mediated by JAK1/2 and STAT3. PLoS One. 2021 Mar 4;16(3):e0248011. doi: 10.1371/journal.pone.0248011. eCollection 2021.
PMID: 33662027BACKGROUNDDmitrieva NI, Walts AD, Nguyen DP, Grubb A, Zhang X, Wang X, Ping X, Jin H, Yu Z, Yu ZX, Yang D, Schwartzbeck R, Dalgard CL, Kozel BA, Levin MD, Knutsen RH, Liu D, Milner JD, Lopez DB, O'Connell MP, Lee CR, Myles IA, Hsu AP, Freeman AF, Holland SM, Chen G, Boehm M. Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome. J Clin Invest. 2020 Aug 3;130(8):4167-4181. doi: 10.1172/JCI135490.
PMID: 32369445BACKGROUNDMyles IA, Castillo CR, Barbian KD, Kanakabandi K, Virtaneva K, Fitzmeyer E, Paneru M, Otaizo-Carrasquero F, Myers TG, Markowitz TE, Moore IN, Liu X, Ferrer M, Sakamachi Y, Garantziotis S, Swamydas M, Lionakis MS, Anderson ED, Earland NJ, Ganesan S, Sun AA, Bergerson JRE, Silverman RA, Petersen M, Martens CA, Datta SK. Therapeutic responses to Roseomonas mucosa in atopic dermatitis may involve lipid-mediated TNF-related epithelial repair. Sci Transl Med. 2020 Sep 9;12(560):eaaz8631. doi: 10.1126/scitranslmed.aaz8631.
PMID: 32908007BACKGROUND
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Ian A Myles, M.D.
National Institute of Allergy and Infectious Diseases (NIAID)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- NIH
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
April 28, 2021
First Posted
April 29, 2021
Study Start
August 10, 2021
Primary Completion (Estimated)
June 30, 2027
Study Completion (Estimated)
June 30, 2027
Last Updated
May 29, 2026
Record last verified: 2026-01-14