Primary ImmunodeficiencyNCT04864886
Metabolic Profiling of Immune Responses in Immune-mediated Diseases
An observational study of Primary Immunodeficiency and Psoriasis, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 75 yearsHealthy volunteers can take part
- Conditions the study is for
- Primary Immunodeficiency, Psoriasis, Atopic Dermatitis
- How many people
- 300 participants
- Where
- 1 siteUnited States
- Study dates
- 10 Aug 2021to 30 Jun 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 75 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 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.
Who may be able to join
- 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
Show all 10Show fewer
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY8664111010, prpl@cc.nih.gov
About this study
Official title: Metabolic Profiling of Immune Responses in Immune-Mediated Diseases
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.
Read more
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.
Read the detailed description
Study Description:
This is an exploratory sample collection study enrolling adult healthy volunteers and patients with immune-mediated diseases to elucidate the metabolic signatures associated with immune-mediated diseases. We hypothesize that activation of, and responses to, specific immune pathways will require metabolic changes within cells, serum, and skin.
Following screening and baseline procedures, including blood draw, participants who are able to attend onsite visits will undergo skin biopsies. The skin biopsies will involve up to 4 biopsies: 2 initial punch biopsies 2 mm in diameter, optionally followed by 1 or 2 punch biopsies 3 (+/-10) days later using a 3-mm punch to encompass the initial biopsy site(s), capturing the tissue at 3-14 days of healing. There will be an option for blister induction to maximize keratinocyte collection. Blister induction involves creating 8 blisters on the forearm and removing the tops of the blisters for primary cell culture derivation. In addition, skin swabs and tape strips may be collected to assess for microbial or host markers of epithelial repair. Peripheral blood and functional signatures will be collected with the initial and follow-up biopsies to compare metabolic and functional signatures in peripheral blood cells and serum with those in the skin. Urine may be collected in order to detect metabolites that are not as easily detected in the blood. After day 0 (or 3-14, if the participant has that optional visit), participation in the study will be complete. At-home participants who cannot attend onsite visits may enroll for survey
data collection and optional at-home sample collection (with at least one sample type required). Exposome data will be collected to assess how environmental, occupational, and dietary exposures associate with the results.
Samples and data will be stored for future research use.
Objectives:
Primary Objectives:
- Evaluate metabolic profiles in immune activation associated with known or suspected immune-mediated disorders.
- Determine whether there are abnormalities in specific tissue repair pathways, such as epithelial to mesenchymal transition (EMT), that are associated with immune-mediated disorders.
Secondary Objectives:
Not applicable.
Exploratory Objective:
Evaluate how metabolic profiles in immune activation vary with differing occupational, environmental, and/or dietary exposures.
Endpoints:
Primary Endpoints:
- Fold differences in metabolic pathways associated with immune pathways.
- Fold differences in metabolic pathways related to wound healing.
- Change in relative abundance of microbial skin taxa and/or skin metabolites associated with wound healing or immune-mediated disorders.
Secondary Endpoints:
Not applicable.
Exploratory Endpoints:
- Association between fold differences in metabolic pathways associated with immune pathways and environmental, occupational, and/or dietary exposures.
- Association between fold differences in metabolic pathways related to wound healing and environmental, occupational, and/or dietary exposures.
- Association between change in relative abundance of microbial skin taxa and/or skin metabolites associated with wound healing or immune-mediated disorders and environmental, occupational, and/or dietary exposures.
- Keywords
- Primary Immunodeficiency, Psoriasis, Atopic Dermatitis, pathways, Natural History
- Medical subject headings
- Primary Immunodeficiency Diseases, Psoriasis, Dermatitis, Atopic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: Throughout study
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Apr 2021
- Study start10 Aug 2021
- Primary completion30 Jun 2027 (estimated)
- Study completion30 Jun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Primary ImmunodeficiencyStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Ian A Myles, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04864886
- Sponsor's protocol ID
- 10000392
- Other IDs
- 000392-I
- Status last verified
- 26 Aug 2026
- First submitted
- 28 Apr 2021
- Last updated
- 3 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 33662027Dmitrieva 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.
PubMed 32369445Myles 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.
PubMed 32908007
Study at a glance
From the registry record, last updated by the sponsor on 3 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Metabolic Profiling of Immune Responses in Immune-Mediated Diseases
- ClinicalTrials.gov ID
- NCT04864886
- Acronym / sponsor ID
- 10000392
- Keywords
- Primary Immunodeficiency, Psoriasis, Atopic Dermatitis, pathways, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 10 Aug 2021 (actual)
- Primary completion
- 30 Jun 2027 (estimated)
- Study completion
- 30 Jun 2027 (estimated)
- First posted
- 29 Apr 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Study Description:
This is an exploratory sample collection study enrolling adult healthy volunteers and patients with immune-mediated diseases to elucidate the metabolic signatures associated with immune-mediated diseases. We hypothesize that activation of, and responses to, specific immune pathways will require metabolic changes within cells, serum, and skin.
Following screening and baseline procedures, including blood draw, participants who are able to attend onsite visits will undergo skin biopsies. The skin biopsies will involve up to 4 biopsies: 2 initial punch biopsies 2 mm in diameter, optionally followed by 1 or 2 punch biopsies 3 (+/-10) days later using a 3-mm punch to encompass the initial biopsy site(s), capturing the tissue at 3-14 days of healing. There will be an option for blister induction to maximize keratinocyte collection. Blister induction involves creating 8 blisters on the forearm and removing the tops of the blisters for primary cell culture derivation. In addition, skin swabs and tape strips may be collected to assess for microbial or host markers of epithelial repair. Peripheral blood and functional signatures will be collected with the initial and follow-up biopsies to compare metabolic and functional signatures in peripheral blood cells and serum with those in the skin. Urine may be collected in order to detect metabolites that are not as easily detected in the blood. After day 0 (or 3-14, if the participant has that optional visit), participation in the study will be complete. At-home participants who cannot attend onsite visits may enroll for survey
data collection and optional at-home sample collection (with at least one sample type required). Exposome data will be collected to assess how environmental, occupational, and dietary exposures associate with the results.
Samples and data will be stored for future research use.
Objectives:
Primary Objectives:
- Evaluate metabolic profiles in immune activation associated with known or suspected immune-mediated disorders.
- Determine whether there are abnormalities in specific tissue repair pathways, such as epithelial to mesenchymal transition (EMT), that are associated with immune-mediated disorders.
Secondary Objectives:
Not applicable.
Exploratory Objective:
Evaluate how metabolic profiles in immune activation vary with differing occupational, environmental, and/or dietary exposures.
Endpoints:
Primary Endpoints:
- Fold differences in metabolic pathways associated with immune pathways.
- Fold differences in metabolic pathways related to wound healing.
- Change in relative abundance of microbial skin taxa and/or skin metabolites associated with wound healing or immune-mediated disorders.
Secondary Endpoints:
Not applicable.
Exploratory Endpoints:
- Association between fold differences in metabolic pathways associated with immune pathways and environmental, occupational, and/or dietary exposures.
- Association between fold differences in metabolic pathways related to wound healing and environmental, occupational, and/or dietary exposures.
- Association between change in relative abundance of microbial skin taxa and/or skin metabolites associated with wound healing or immune-mediated disorders and environmental, occupational, and/or dietary exposures.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 18 to 75 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 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.
Key inclusion criteria (10 listed)
- In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- Meets one of the following:
- 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.
Key exclusion criteria (7 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Change in relative abundance of microbial skin taxa and/or skin metabolites associated with wound healing or immune mediated disorders.
Time frame: Throughout study
Determine whether there are abnormalities in specific tissue repair pathways, such as epithelial to mesenchymal transition (EMT) are associated with immune-mediated disorders.
Fold difference in metabolic pathways associated with immune pathways.
Time frame: Throughout study
Evaluate metabolic profiles in immune activation associated with known or suspected immune-mediated disorders.
Fold differences in metabolic pathways related to wound healing.
Time frame: Throughout study
Determine whether there are abnormalities in specific tissue repair pathways, such as epithelial to mesenchymal transition (EMT) are associated with immune-mediated disorders.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Nov 2026.
- Background: PubMed 33662027McCann 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.
- Background: PubMed 32369445Dmitrieva 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.
- Background: PubMed 32908007Myles 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.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Ian A Myles, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Immunodeficiency and Psoriasis, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Jodi L Blake, R.N. ((301) 605-2896, jodi.blake@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in relative abundance of microbial skin taxa and/or skin metabolites associated with wound healing or immune mediated disorders. (time frame: Throughout study). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04864886, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Nov 2026.