NCT00605878

Brief Summary

This study will examine microbes (e.g., bacteria, fungi, viruses) that live on human skin and how microbes contribute to health and disease. It will analyze healthy human skin and how the these microorganisms might change in patients with atopic dermatitis (AD), a skin condition also known as eczema. Healthy volunteers, as well as patients with moderate to severe eczema (AD), between 2 and 40 years of age may be eligible for this study. We also wish to enroll children and adults aged 2-40 who have been diagnosed with inherited immune disorders known as HIES (hyperimmunoglobulin-E syndrome), WAS (Wiskott-Aldrich syndrome), or DOCK8 immunodeficiency because they frequently have skin problems similar to AD. Eligible participants undergo the following tests and procedures:

  • Medical family and medication history
  • Skin examination
  • Blood tests (research blood as well as serum IgE, and complete blood count)
  • Skin samples to analyze microbes. Samples are obtained by the following methods: swabbing the skin with a cotton swab; scraping (scratching) the skin gently with a blade to remove only the outermost skin layers; and, only in adults, biopsy (surgical removal) of a small skin sample less than 1/4-inch (5 mm) in diameter.
  • Nose swabs to analyze microbes.
  • Patients with eczema may have photographs of their skin taken to help monitor the skin rashes. Participants may be contacted periodically for follow-up studies. Patients with atopic dermatitis may have additional skin samples collected to examine changes in the skin bacteria over time and during all of the stages of eczema. In addition, patients who have a flare of their eczema are asked to undergo a skin sample collection as soon as possible.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
530

participants targeted

Target at P75+ for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

January 22, 2008

Completed
1 day until next milestone

First Submitted

Initial submission to the registry

January 23, 2008

Completed
8 days until next milestone

First Posted

Study publicly available on registry

January 31, 2008

Completed
Last Updated

January 16, 2026

Status Verified

December 19, 2025

First QC Date

January 23, 2008

Last Update Submit

January 15, 2026

Conditions

Keywords

SkinNatural HistoryMicrobiomeBacteriaAtopic Dermatitis (Eczema)Atopic DermatitisEczemaHealth VolunteerHG

Outcome Measures

Primary Outcomes (2)

  • Primary Immunodeficiency

    Analyze the microbiome of patients with primary immunodeficiency disorders that are known to have AD-like skin disease.

    Ongoing

  • Healthy volunteers

    Characterize the microbiome of healthy individuals.

    Ongoing

Study Arms (6)

Grouo 3

Healthy (pediatric) controls

Group 1

Healthy (adult) volunteers

Group 2

AD patients

Group 4

Patients diagnosed with the primary immunodeficiency hyperIgE syndrome (HIES)

Group 5

Patients diagnosed with the primary immunodeficiency Wiskott-Aldrich Syndrome (WAS)

Group 6

Patients diagnosed with the combined immunodeficiency associated with DOCK8 mutation (DOCK8)

Eligibility Criteria

Age2 Years - 100 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Healthy (adult) volunteers AD patients Healthy (pediatric) controls Patients diagnosed with the primary immunodeficiency hyperIgE syndrome (HIES) Patients diagnosed with the primary immunodeficiency Wiskott-Aldrich Syndrome (WAS) Patients diagnosed with the combined immunodeficiency associated with DOCK8 mutation (DOCK8)

You may qualify if:

  • Must have a primary care professional who will continue standard of care/evaluation in tandem with the protocol to whom information and recommendations can be communicated.
  • Adult males or females aged 18-50 at time of enrollment.
  • A. Confirmed diagnosis of AD (UK Working Party s Diagnostic Criteria)24
  • B. Moderate to severe AD SCORAD greater than or equal to 25(25)
  • C. Greater than or equal to 1 affected antecubital (or popliteal) fossae at time of enrollment to serve as a target site.
  • A. Males or females 2-18 years of age.
  • A. Must have mutation-proven diagnosis, with or without eczematous dermatitis.

You may not qualify if:

  • Any subjects receiving or planning to receive an IND agent, ultraviolet light therapy, monoclonal antibodies, or systemic immunosuppressants \< 7 days or 5 half-lives (whichever is the longer time period) of initiating this protocol.
  • Any subjects who have cancer, and are currently or have previously received treatment with chemotherapy or radiation for treatment of malignancies within the previous 6 months.
  • Any subject with a history of bone marrow transplant or gene therapy.
  • A. Unable to remain off systemic (oral) antibiotics or systemic (oral) steroids for at least 7 days prior to body site sampling. Unable to temporarily discontinue use of topical steroids or calcineurin inhibitors for greater than or equal to 7 days to small areas of skin intended for sampling. (Topical therapies/emollients for AD may be continued to non-adjacent, nontarget sites.)
  • B. Underlying immunodeficiency, either as primary disease or secondary to treatment.
  • A. Unable to remain off topical steroids and emollients for preferably 7 days but at least 24 hours prior to body site sampling.
  • A. Any subjects with unstable or uncontrolled or chronic medical conditions requiring treatment or hospitalization. Individual determinations will be made at the discretion of the medical investigator.
  • B. Underlying immunodeficiency, either as primary disease or secondary to treatment.
  • C. Other documented chronic dermatologic disease, such as AD or psoriasis that may interfere with evaluation of the cutaneous microbiome. Common transient conditions, such as acne, are permissible.
  • D. Subjects who provide direct healthcare or reside in healthcare facilities or in non-hospital settings such as assisted living facilities, homeless shelters, jails and prisons as well as subjects with frequent exposure to laboratory animals.
  • E. Subjects with asthma.
  • \. Any female with symptoms and/or serum hormone levels consistent with perimenopause

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (4)

  • Oh J, Freeman AF; NISC Comparative Sequencing Program; Park M, Sokolic R, Candotti F, Holland SM, Segre JA, Kong HH. The altered landscape of the human skin microbiome in patients with primary immunodeficiencies. Genome Res. 2013 Dec;23(12):2103-14. doi: 10.1101/gr.159467.113. Epub 2013 Oct 29.

    PMID: 24170601BACKGROUND
  • Oh J, Byrd AL, Deming C, Conlan S; NISC Comparative Sequencing Program; Kong HH, Segre JA. Biogeography and individuality shape function in the human skin metagenome. Nature. 2014 Oct 2;514(7520):59-64. doi: 10.1038/nature13786.

    PMID: 25279917BACKGROUND
  • Gao Z, Tseng CH, Pei Z, Blaser MJ. Molecular analysis of human forearm superficial skin bacterial biota. Proc Natl Acad Sci U S A. 2007 Feb 20;104(8):2927-32. doi: 10.1073/pnas.0607077104. Epub 2007 Feb 9.

    PMID: 17293459BACKGROUND
  • Ahmed N, Joglekar P, Deming C; NISC Comparative Sequencing Program; Lemon KP, Kong HH, Segre JA, Conlan S. Genomic characterization of the C. tuberculostearicum species complex, a prominent member of the human skin microbiome. mSystems. 2023 Dec 21;8(6):e0063223. doi: 10.1128/msystems.00632-23. Epub 2023 Nov 10.

Related Links

MeSH Terms

Conditions

EczemaDermatitis, Atopic

Condition Hierarchy (Ancestors)

DermatitisSkin DiseasesSkin and Connective Tissue DiseasesSkin Diseases, EczematousSkin Diseases, GeneticGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesHypersensitivity, ImmediateHypersensitivityImmune System Diseases

Study Officials

  • Julie A Segre, Ph.D.

    National Human Genome Research Institute (NHGRI)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Heidi H Kong, M.D.

CONTACT

Julie A Segre, Ph.D.

CONTACT

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

January 23, 2008

First Posted

January 31, 2008

Study Start

January 22, 2008

Last Updated

January 16, 2026

Record last verified: 2025-12-19

Data Sharing

IPD Sharing
Will not share

Locations