An observational study in PGM3 Deficiency, Eosinophilic and/or Atopic Dermatitis and OSMR Deficiency, sponsored by National Institute of Allergy and Infectious Diseases (NIAID). Completed at 1 site in United States. Open to participants aged 2 Years to 80 Years. Per ClinicalTrials.gov, last updated 2026-10-16.
Sponsored by National Institute of Allergy and Infectious Diseases (NIAID) · Observational
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:
Design:
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.
238 studies on the registry are indexed under Dermatitis; 34 are open to participants now.
This study's enrollment of 945 is above the median of 183 across 35 observational studies indexed under Dermatitis.
Browse Dermatitis studies →National Institute of Allergy and Infectious Diseases (NIAID) is the lead sponsor of 2,446 studies on the registry; 179 are open to participants now.
Of its 405 completed or terminated interventional studies of FDA-regulated products, 302 (75%) have results posted.
Counted across the registry records on this site, refreshed daily.
Referrals for severe, familial or atypical allergic disease from throughout the country and world-- either physician or self referrals.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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 , 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.
OR
Healthy Volunteer must:
Be at least 18 years old and no greater than 80 years old, and able to provide .
2. Have no history of severe or recurrent allergic diseases or reactions.
EXCLUSION CRITERIA:
Any subject with any of the following criteria will be excluded:
Any unaffected relative or healthy volunteer with any of the following criteria will be excluded:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
An allergy, or another reaction of the immune system, to a substance. “Hypersensitivity to the study drug” means a known allergic reaction to it — not every side effect a medicine can have.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Hypersensitivity
An allergy, or another reaction of the immune system, to a substance. “Hypersensitivity to the study drug” means a known allergic reaction to it — not every side effect a medicine can have.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Eczema
unaffected relatives
healthy volunteers
other allergic phenotypes
SCORAD
Severity of atopic dermatitis, only taken when present.
Time frame: At initial and single follow up visit 1-2 months after.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
This study is completed, as verified in Sep 2026. You cannot join it, but the record below documents what was studied.
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