PGM3 DeficiencyNCT01164241
Natural History of Severe Allergic Inflammation and Reactions
An observational study of PGM3 Deficiency and Eosinophilic and/or Atopic Dermatitis, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial summary
Background: Allergic inflammation is central to allergy-related diseases and disorders, such as asthma, food allergies, and atopic dermatitis. Atopic dermatitis, commonly called eczema is a chronic, noncontagious skin condition, usually starting in the first years of life, which causes itching and scaling of an… Read more about this study
- Who is it for?
- Ages 2 to 80 years
- Conditions the study is for
- PGM3 Deficiency, Eosinophilic and/or Atopic Dermatitis, OSMR Deficiency
- How many people
- 945 participants
- Where
- 1 siteUnited States
- Study dates
- 12 Jul 2010to not given
- Phase
- Observational
- Are there results?
- None posted in the registry
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 2 to 80 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Referrals for severe, familial or atypical allergic disease from throughout the country and world-- either physician or self referrals.
Who may be able to join
- Subject or unaffected relatives must:
- Be at least 2 years of age and less than or equal to 21 years of age at the time of enrollment and have documented history of severe allergic inflammation or hypersensitivity, that began in the first 5 years of life, that is moderate to severe, and with continued inflammation or
- recurrent flares in the preceding 3 months. Patients greater than 21 years of age with a history of disease in the first 5 years of life and/or, if in the opinion of the PI or AIs, the patient would be of interest to fulfill the objectives of the study.
- OR
- Be 2-80 years of age with a known or suspected genetic or congenital disorder associated with severe allergic inflammation or
- hypersensitivity, as determined by the PI or AIs.
Show all 16Show fewer
- OR
- Be an a relative of a patient enrolled in the protocol.
- Have a private physician to provide local continuity of care.
- Provide a letter of referral, with copies of pertinent medical history and laboratory studies as indicated, from the prospective study participant s referring physician; this is not a requirement for healthy relatives.
- Be willing to donate blood, buccal swabs, saliva, skin and nasal swabs for research and clinical studies and for storage to be used for future research and genetic testing; for unaffected relatives, be willing to donate blood and/or undergo allergy skin testing, in addition to having blood samples stored for future research and genetic testing.
- Pregnant women or women who become pregnant are eligible to participate or continue participation on the study.
- Healthy Volunteer must:
- Be at least 18 years old and no greater than 80 years old, and able to provide informed consent.
- 2. Have no history of severe or recurrent allergic diseases or reactions.
- Be willing to have samples stored for research and genetic testing.
Who cannot join
- Any subject with any of the following criteria will be excluded:
- Presence of conditions that, in the judgment of the investigator or the referring physician, may put the subject at undue risk or make them unsuitable for participation in the study.
- Inability or refusal to undergo study procedures.
- Inability to participate for the duration of the study.
- Any unaffected relative or healthy volunteer with any of the following criteria will be excluded:
- Presence of conditions that, in the judgment of the investigator or the referring physician, may put the subject at undue risk or make them unsuitable for participation in the study.
- Inability or refusal to undergo study procedures.
- Inability to provide informed consent.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Background:
- Allergic inflammation is central to allergy-related diseases and disorders, such as asthma, food allergies, and atopic dermatitis. Atopic dermatitis, commonly called eczema is a chronic, noncontagious skin condition, usually starting in the first years of life, which causes itching and scaling of an individual s skin. Because atopic dermatitis is a common condition in children who have allergy-related diseases, including asthma, researchers are interested in studying both individuals with atopic dermatitis and their close relatives (parents and children) to better understand how allergy-related diseases develop and progress. In addition, some patients with inherited disorders with features including atopic dermatitis or other aspects of allergy such as food allergy, asthma, hay fever, hives, and others, will also be seen.
Read more
Objectives:
- To study the natural history of diseases of allergic inflammation, such as atopic dermatitis or genetic disorders associated with allergic inflammation.
Eligibility:
- Children and adolescents between 1 month and 21 years of age who have a documented history of moderate to severe atopic dermatitis.
- Individuals between 1 month and 80 years of age who have a suspected genetic or inherited allergy disorder related to atopic dermatitis or allergic pathways.
- Child and adult relatives of eligible participants will also be studied on this protocol.
Design:
- The study will require one initial visit to the National Institutes of Health Clinical Center (lasting 1-5 days), as well as any required follow-up visits for treatment and research studies. Participants will receive treatment for atopic dermatitis and other allergic diseases as part of the study for up to 1 year.
- Participants will have some or all of the following tests as part of this study:
- A detailed physical examination and medical history
- Allergy skin prick testing to examine participants' responses to different allergens.
- Blood samples for additional allergen testing, testing the immune system, and other research purposes
- Skin punch biopsy to take a skin sample
- Lung function tests to measure airflow from the lungs and inflammation
- Food-related tests to diagnose potential food allergies
- Leukapheresis to collect white blood cells only
- Research samples, including stool specimens, saliva samples, buccal swabs (to collect cells from the inside of the cheek), and skin cell samples
- Clinical digital photography to provide images of affected and healthy skin.
- Participants will be asked to return for follow-up visits and tests for up to 1 year after the initial visit(s).
Read the detailed description
Background:
Allergic inflammation is central to the pathogenesis of allergic diseases, including atopic dermatitis, asthma, allergic rhinitis, and food allergy. These disorders are common, affecting up to 50 million Americans, and their pathophysiology remains poorly understood. Among allergic diseases, atopic dermatitis is common, with a prevalence of up to 20% in children. It is associated with the most dramatic elevations of IgE levels and most prominent T-helper type 2 cell (Th2) inflammation, and treatment remains challenging. Atopic dermatitis, eosinophilic inflammation, and systemic immediate hypersensitivity reactions are heralding manifestation of allergic disease in many children, making these ideal disorders for studying the effector mechanisms promoting the development and progression of allergic diseases. In addition to these manifestations, there are also a number of characterized genetic and congenital diseases, most presenting in childhood, that have prominent allergic manifestations, including dermatitis, or affect atopic pathways. These disorders provide further opportunity for advancing our understanding of the genetics and pathophysiology of diseases of allergic inflammation. The NIAID Laboratory of Allergic Diseases (LAD) has a long interest in exploring the mechanisms of allergic inflammation. Utilizing the resources of the LAD and the NIH Clinical Center, we will advance our understanding of allergic inflammation and the genetics and pathogenesis of allergic diseases through the study of these patients. The findings of this protocol will have implications for improved diagnosis, treatment and prevention of allergic diseases, including atopic asthma.
Objectives:
The overall goal of this exploratory protocol is to study the natural history of individuals with severe allergic inflammation and hypersensitivity reactions, focusing on individuals and families with known or suspected inherited or acquired genetic causes for these clinical manifestations. Research studies obtained from blood, skin, saliva, bone marrow, and other tests obtained from participants will be used to explore the genetic, immunologic, structural, and microbiologic abnormalities of these diseases. Research studies obtained from blood samples, allergy skin testing, and skin biopsies of unaffected relatives and healthy volunteers will be used as controls for assays and genetic tests. Results of research studies will be correlated with clinical features of allergic manifestations of disease and response to therapy.
Eligibility:
Subjects eligible for enrollment in this study include children and a subset of adults with a known or suspected inherited or acquired genetic allergic disorder leading to severe allergic inflammation or reactions. Unaffected relatives of an enrolled subject (both children and adults) and healthy adult volunteers will also be eligible for separate enrollment.
Design:
The initial enrollment for this protocol will be 1500 primary subjects. In addition, approximately 500 healthy or affected parents, siblings, or other relatives may be enrolled for initial history and clinical and research laboratory evaluation only. Approximately 150 unrelated healthy adult volunteers will also be enrolled. Affected subjects in this study will receive standard care for allergic diseases, both outpatient and inpatient, during the period of enrollment and will receive extensive evaluation as clinically indicated, in addition to research studies.
- Conditions
- PGM3 Deficiency, Eosinophilic and/or Atopic Dermatitis, OSMR Deficiency, Primary Localized Cutaneous Amyloidosis, Hereditary Alpha-tryptasemia
- Keywords
- Tryptase, Dermatitis, Eosinophilia, Anaphylaxis, Natural History, Genetics
- Medical subject headings
- Amyloidosis, Primary Cutaneous, Hereditary alpha-tryptasemia syndrome, Dermatitis, Eosinophilia, Anaphylaxis
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 |
|---|---|---|
| 1 | Eczema | |
| 2 | unaffected relatives | |
| 3 | healthy volunteers | |
| 4 | other allergic phenotypes |
What is being measured
The primary outcome is the main question the study is designed to answer.
SCORAD
Severity of atopic dermatitis, only taken when present.
Measured: At initial and single follow up visit 1-2 months after.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jul 2010 (estimated)
- Study start12 Jul 2010
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 PGM3 DeficiencyStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 945 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Pamela A Frischmeyer-Guerrerio, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01164241
- Sponsor's protocol ID
- 100148
- Other IDs
- 10-I-0148
- Status last verified
- 8 Sep 2026
- First submitted
- 15 Jul 2010
- Last updated
- 16 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Glover SC, Carter MC, Korosec P, Bonadonna P, Schwartz LB, Milner JD, Caughey GH, Metcalfe DD, Lyons JJ. Clinical relevance of inherited genetic differences in human tryptases: Hereditary alpha-tryptasemia and beyond. Ann Allergy Asthma Immunol. 2021 Dec;127(6):638-647. doi: 10.1016/j.anai.2021.08.009. Epub 2021 Aug 13.
PubMed 34400315Lyons JJ, Milner JD. Primary atopic disorders. J Exp Med. 2018 Apr 2;215(4):1009-1022. doi: 10.1084/jem.20172306. Epub 2018 Mar 16.
PubMed 29549114Lexmond WS, Goettel JA, Lyons JJ, Jacobse J, Deken MM, Lawrence MG, DiMaggio TH, Kotlarz D, Garabedian E, Sackstein P, Nelson CC, Jones N, Stone KD, Candotti F, Rings EH, Thrasher AJ, Milner JD, Snapper SB, Fiebiger E. FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy. J Clin Invest. 2016 Oct 3;126(10):4030-4044. doi: 10.1172/JCI85129. Epub 2016 Sep 19.
PubMed 27643438
Study at a glance
From the registry record, last updated by the sponsor on 16 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History of Severe Allergic Inflammation and Reactions
- ClinicalTrials.gov ID
- NCT01164241
- Acronym / sponsor ID
- 100148
- Conditions
- PGM3 Deficiency, Eosinophilic and/or Atopic Dermatitis, OSMR Deficiency, Primary Localized Cutaneous Amyloidosis, Hereditary Alpha-tryptasemia
- Keywords
- Tryptase, Dermatitis, Eosinophilia, Anaphylaxis, Natural History, Genetics
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 945 participants (actual)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 12 Jul 2010 (actual)
- First posted
- 16 Jul 2010 (estimated)
- 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:
- Allergic inflammation is central to allergy-related diseases and disorders, such as asthma, food allergies, and atopic dermatitis. Atopic dermatitis, commonly called eczema is a chronic, noncontagious skin condition, usually starting in the first years of life, which causes itching and scaling of an individual s skin. Because atopic dermatitis is a common condition in children who have allergy-related diseases, including asthma, researchers are interested in studying both individuals with atopic dermatitis and their close relatives (parents and children) to better understand how allergy-related diseases develop and progress. In addition, some patients with inherited disorders with features including atopic dermatitis or other aspects of allergy such as food allergy, asthma, hay fever, hives, and others, will also be seen.
Objectives:
- To study the natural history of diseases of allergic inflammation, such as atopic dermatitis or genetic disorders associated with allergic inflammation.
Eligibility:
- Children and adolescents between 1 month and 21 years of age who have a documented history of moderate to severe atopic dermatitis.
- Individuals between 1 month and 80 years of age who have a suspected genetic or inherited allergy disorder related to atopic dermatitis or allergic pathways.
- Child and adult relatives of eligible participants will also be studied on this protocol.
Design:
- The study will require one initial visit to the National Institutes of Health Clinical Center (lasting 1-5 days), as well as any required follow-up visits for treatment and research studies. Participants will receive treatment for atopic dermatitis and other allergic diseases as part of the study for up to 1 year.
- Participants will have some or all of the following tests as part of this study:
- A detailed physical examination and medical history
- Allergy skin prick testing to examine participants' responses to different allergens.
- Blood samples for additional allergen testing, testing the immune system, and other research purposes
- Skin punch biopsy to take a skin sample
- Lung function tests to measure airflow from the lungs and inflammation
- Food-related tests to diagnose potential food allergies
- Leukapheresis to collect white blood cells only
- Research samples, including stool specimens, saliva samples, buccal swabs (to collect cells from the inside of the cheek), and skin cell samples
- Clinical digital photography to provide images of affected and healthy skin.
- Participants will be asked to return for follow-up visits and tests for up to 1 year after the initial visit(s).
Detailed description
Background:
Allergic inflammation is central to the pathogenesis of allergic diseases, including atopic dermatitis, asthma, allergic rhinitis, and food allergy. These disorders are common, affecting up to 50 million Americans, and their pathophysiology remains poorly understood. Among allergic diseases, atopic dermatitis is common, with a prevalence of up to 20% in children. It is associated with the most dramatic elevations of IgE levels and most prominent T-helper type 2 cell (Th2) inflammation, and treatment remains challenging. Atopic dermatitis, eosinophilic inflammation, and systemic immediate hypersensitivity reactions are heralding manifestation of allergic disease in many children, making these ideal disorders for studying the effector mechanisms promoting the development and progression of allergic diseases. In addition to these manifestations, there are also a number of characterized genetic and congenital diseases, most presenting in childhood, that have prominent allergic manifestations, including dermatitis, or affect atopic pathways. These disorders provide further opportunity for advancing our understanding of the genetics and pathophysiology of diseases of allergic inflammation. The NIAID Laboratory of Allergic Diseases (LAD) has a long interest in exploring the mechanisms of allergic inflammation. Utilizing the resources of the LAD and the NIH Clinical Center, we will advance our understanding of allergic inflammation and the genetics and pathogenesis of allergic diseases through the study of these patients. The findings of this protocol will have implications for improved diagnosis, treatment and prevention of allergic diseases, including atopic asthma.
Objectives:
The overall goal of this exploratory protocol is to study the natural history of individuals with severe allergic inflammation and hypersensitivity reactions, focusing on individuals and families with known or suspected inherited or acquired genetic causes for these clinical manifestations. Research studies obtained from blood, skin, saliva, bone marrow, and other tests obtained from participants will be used to explore the genetic, immunologic, structural, and microbiologic abnormalities of these diseases. Research studies obtained from blood samples, allergy skin testing, and skin biopsies of unaffected relatives and healthy volunteers will be used as controls for assays and genetic tests. Results of research studies will be correlated with clinical features of allergic manifestations of disease and response to therapy.
Eligibility:
Subjects eligible for enrollment in this study include children and a subset of adults with a known or suspected inherited or acquired genetic allergic disorder leading to severe allergic inflammation or reactions. Unaffected relatives of an enrolled subject (both children and adults) and healthy adult volunteers will also be eligible for separate enrollment.
Design:
The initial enrollment for this protocol will be 1500 primary subjects. In addition, approximately 500 healthy or affected parents, siblings, or other relatives may be enrolled for initial history and clinical and research laboratory evaluation only. Approximately 150 unrelated healthy adult volunteers will also be enrolled. Affected subjects in this study will receive standard care for allergic diseases, both outpatient and inpatient, during the period of enrollment and will receive extensive evaluation as clinically indicated, in addition to research studies.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Eczema |
| 2 | – | –unaffected relatives |
| 3 | – | –healthy volunteers |
| 4 | – | –other allergic phenotypes |
Who may qualify
- Ages
- 2 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Referrals for severe, familial or atypical allergic disease from throughout the country and world-- either physician or self referrals.
Key inclusion criteria (16 listed)
- Subject or unaffected relatives must:
- recurrent flares in the preceding 3 months. Patients greater than 21 years of age with a history of disease in the first 5 years of life and/or, if in the opinion of the PI or AIs, the patient would be of interest to fulfill the objectives of the study.
- OR
- hypersensitivity, as determined by the PI or AIs.
- OR
Key exclusion criteria (8 listed)
- Presence of conditions that, in the judgment of the investigator or the referring physician, may put the subject at undue risk or make them unsuitable for participation in the study.
- Inability or refusal to undergo study procedures.
- Inability to participate for the duration of the study.
- Any unaffected relative or healthy volunteer with any of the following criteria will be excluded:
- Presence of conditions that, in the judgment of the investigator or the referring physician, may put the subject at undue risk or make them unsuitable for participation in the study.
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
SCORAD
Time frame: At initial and single follow up visit 1-2 months after.
Severity of atopic dermatitis, only taken when present.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Oct 2026.
- Background: PubMed 34400315Glover SC, Carter MC, Korosec P, Bonadonna P, Schwartz LB, Milner JD, Caughey GH, Metcalfe DD, Lyons JJ. Clinical relevance of inherited genetic differences in human tryptases: Hereditary alpha-tryptasemia and beyond. Ann Allergy Asthma Immunol. 2021 Dec;127(6):638-647. doi: 10.1016/j.anai.2021.08.009. Epub 2021 Aug 13.
- Background: PubMed 29549114Lyons JJ, Milner JD. Primary atopic disorders. J Exp Med. 2018 Apr 2;215(4):1009-1022. doi: 10.1084/jem.20172306. Epub 2018 Mar 16.
- Derived from this study: PubMed 27643438Lexmond WS, Goettel JA, Lyons JJ, Jacobse J, Deken MM, Lawrence MG, DiMaggio TH, Kotlarz D, Garabedian E, Sackstein P, Nelson CC, Jones N, Stone KD, Candotti F, Rings EH, Thrasher AJ, Milner JD, Snapper SB, Fiebiger E. FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy. J Clin Invest. 2016 Oct 3;126(10):4030-4044. doi: 10.1172/JCI85129. Epub 2016 Sep 19.
- 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. This study is not recruiting at the moment.
Pamela A Frischmeyer-Guerrerio, 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 PGM3 Deficiency and Eosinophilic and/or Atopic Dermatitis, 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 16 inclusion and 8 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: finished, as of the sponsor's last update on 16 Oct 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
SCORAD (time frame: At initial and single follow up visit 1-2 months after.). 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 NCT01164241, 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 16 Oct 2026.