Studies of Skin Microbes in Healthy People and in People With Skin Conditions

NCT ID: NCT00605878

Last Updated: 2025-12-26

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

530 participants

Study Classification

OBSERVATIONAL

Study Start Date

2008-01-22

Brief Summary

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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.

Detailed Description

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* Skin microbiota (bacteria, fungi, viruses, phage, archae) play a significant role in common dermatological conditions, such as atopic dermatitis/AD (eczema).
* Since culture-dependent methods are often biased assessments of microbial diversity, genomic methods can expand our understanding of the human microbiome and skin diseases.
* Chronic dermatitis is typical among rare primary immunodeficiencies: Wiskott-Aldrich syndrome; hyper-IgE syndrome; and combined immunodeficiency associated with DOCK8 mutation syndrome. The skin disease in these monogenic disorders resembles AD, is associated with microbial infections, and may provide additional insight into microbial-host disease interactions.

Conditions

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Eczema Atopic Dermatitis

Keywords

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Skin Natural History Microbiome Bacteria Atopic Dermatitis (Eczema) Atopic Dermatitis Eczema Health Volunteer HG

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Grouo 3

Healthy (pediatric) controls

No interventions assigned to this group

Group 1

Healthy (adult) volunteers

No interventions assigned to this group

Group 2

AD patients

No interventions assigned to this group

Group 4

Patients diagnosed with the primary immunodeficiency hyperIgE syndrome (HIES)

No interventions assigned to this group

Group 5

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

No interventions assigned to this group

Group 6

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

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

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.

Exclusion Criteria

1. 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.
2. 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.
3. 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.

5\. Any female with symptoms and/or serum hormone levels consistent with perimenopause
Minimum Eligible Age

2 Years

Maximum Eligible Age

100 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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National Human Genome Research Institute (NHGRI)

NIH

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Julie A Segre, Ph.D.

Role: PRINCIPAL_INVESTIGATOR

National Human Genome Research Institute (NHGRI)

Locations

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National Institutes of Health Clinical Center

Bethesda, Maryland, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Heidi H Kong, M.D.

Role: CONTACT

Phone: (301) 827-2460

Email: [email protected]

Julie A Segre, Ph.D.

Role: CONTACT

Phone: (301) 402-2314

Email: [email protected]

Facility Contacts

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For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

Role: primary

References

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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.

Reference Type BACKGROUND
PMID: 24170601 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 25279917 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 17293459 (View on PubMed)

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.

Reference Type DERIVED
PMID: 38126779 (View on PubMed)

Related Links

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Other Identifiers

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08-HG-0059

Identifier Type: -

Identifier Source: secondary_id

080059

Identifier Type: -

Identifier Source: org_study_id