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Skin Immunity Sample Collection Involving Blisters and Biopsies

Early Phase 1
Withdrawn
Conditions
Hyper-Immunoglobulin E. Syndrome (HEIS)
Chronic Granulomatous Disease (CGD)
Interventions
Other: Blister induction
Other: Skin Biopsies
Registration Number
NCT03921515
Lead Sponsor
National Institute of Allergy and Infectious Diseases (NIAID)
Brief Summary

Background:

The way the body heals and protects itself from getting sick is called the immune response. Some people with weak immune systems get sick often or get rashes and skin infections. Researchers want to find out how the immune system and skin problems are related so they can help these people.

Objective:

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

Eligibility:

People ages 18-65 with hyper IgE syndrome or Job syndrome or people ages 7-65 with chronic granulomatous disease. Healthy volunteers ages 18 65 are also needed.

Design:

Participants will be screened with:

Medical history

Physical exam

Possible urine tests

Participants will have 1 to 3 visits within about a week. Visits will include the following:

Participants will have a wells device strapped to the inside of the forearm. It will suction the skin and pull the top layer away to form 8 blisters. The skin over the blisters and the liquid inside will be collected.

Participants will have up to 4 skin biopsies. A sharp tool will remove a small plug of skin from the forearm.

Participants may have blood and urine tests.

The skin on participants skin will be rubbed with a cotton swab.

Some participants will have an overnight visit. They will have the blister device placed back on the arm. The wells will be lined up over the blister wounds. The wells will be filled with either saline or the participant s blood serum. The device will be covered and left on the arm for up to 24 hours. Doctors will periodically remove some liquid from the wells.

Detailed Description

The incidence of community-associated (CA) staphylococcal infections, especially those caused by methicillin-resistant Staphylococcus aureus (MRSA), has increased in recent years. Skin and soft tissues are the primary sites for these infections. Although many patients without apparent underlying immune dysfunction suffer from recurrent and persistent skin infections with S.aureus, patients with conditions such as hyper immunoglobulin E syndrome (HIES, or Job s syndrome) and chronic granulomatous disease (CGD) are disproportionately affected. Although underlying host molecular defects responsible for some of these predisposing conditions have been uncovered in recent years, the skin immune response to S. aureus infections has not been elucidated in either healthy volunteers or susceptible populations. We hypothesize that the local skin response determines susceptibility to S. aureus skin infection.

In this sample collection protocol, we will perform exploratory evaluations of anti-staphylococcal immune responses in healthy volunteers, subjects with HIES, and subjects with CGD. Following screening and baseline procedures, including blood draw and skin swab, subjects will have the option to undergo blister induction, where a suction device will be used to induce skin blisters on the forearm. The tops of the blisters and blister fluid will be collected for research testing and storage for future research. An optional overnight inpatient stay may be performed to collect additional cellular infiltrates in response to autologous serum and/or sterile saline. Subjects may also have up to 4 skin punch biopsies from the forearm over the course of a week to capture wound healing progress and identify involved genes. All research procedures will be performed at the National Institutes of Health Clinical Center (NIH CC).

The primary objective of this research is to perform ex vivo assessment of wound healing pathways using a skin blister model and skin biopsies to obtain keratinocyte cultures and evaluate skin immune responses. We will use three experimental approaches: 1) ex vivo evaluation of anti-microbial responses and tissue remodeling through derivation of keratinocyte cultures from skin blisters and biopsies, 2) in vivo and ex vivo assessment of cellular response after blister induction using overnight exposure to autologous serum and/or sterile saline, and 3) evaluation of in vivo responses to skin biopsies. We anticipate that the research will provide critical new information on the human skin immune and remodeling responses and will have direct relevance for the development of vaccines, diagnostics, and therapeutics.

Recruitment & Eligibility

Status
WITHDRAWN
Sex
All
Target Recruitment
70
Inclusion Criteria

Not provided

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Exclusion Criteria

Not provided

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Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
1Blister inductionBlister Induction
2Skin BiopsiesSkin Biopsies
Primary Outcome Measures
NameTimeMethod
Tumor necrosis factor alpha (TNFa) production by keratinocytes from patients with HIES versus healthy volunteersThroughout study

Evaluate epithelial cell responses to cutaneous wounds and infections of keratinocytes and other cutaneous epithelial cells in patients with HIES or CGD and healthy volunteers.

T-cell infiltration as percent of total cell infiltration in patients with CGD versus healthy volunteers.Throughout study

Identify cellular mediators that contribute to the inflammatory processthrough evaluation of infiltrating cell types.

Fold induction in genes related to wound healing.Throughout study

Determine whether there are abnormalities in specific tissue repair pathways, such as epithelial to mesenchymal transition (EMT).

Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

National Institutes of Health Clinical Center

🇺🇸

Bethesda, Maryland, United States

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