Metabolic Profiling of Immune Responses in Immune-mediated Diseases

RECRUITING

I'm interested ...!!

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.

Conditions:

Primary Immunodeficiency Psoriasis Atopic Dermatitis Immune-mediated Diseases

Study Start (Actual) 2021-08-10

Primary Completion (Estimated) 2027-06-30

Study Completion (Estimated) 2027-06-30

Enrollment (Estimated) 200

Study Type OBSERVATIONAL

Phase N/A

Locations:

📍 Bethesda, Maryland, United States

Eligibility Criteria

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.

Ages Eligible for Study: 18 Years to 75 Years (ADULT, OLDER_ADULT)

Sexes Eligible for Study: ALL

Accepts Healthy Volunteers: Yes

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 Registration Dates

First Submitted2021-04-28
First Submitted that Met QC Criteria2021-04-28
First Posted2021-04-29

Study Record Updates

Last Update Submitted that Met QC Criteria2024-03-27
Last Update Posted2024-03-28
Last Verified2024-03-26