Natural History of Severe Allergic Inflammation and Reactions

NCT01164241 | Completed

• 2 other identifiers: 10014810-I-0148
• Study Type: observational
• Target: 945
• Locations: 1 country
• Sites: 1

Brief 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 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)....

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

Outcome Measures

Primary Outcomes (1)

• SCORAD

  Severity of atopic dermatitis, only taken when present.

  At initial and single follow up visit 1-2 months after.

Study Arms (4)

1

Eczema

2

unaffected relatives

3

healthy volunteers

4

other allergic phenotypes

Eligibility Criteria

• Age: 2 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Referrals for severe, familial or atypical allergic disease from throughout the country and world-- either physician or self referrals.

You may qualify if:

• 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.
• 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.
• 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.
• \. Have no history of severe or recurrent allergic diseases or reactions.
• Be willing to have samples stored for research and genetic testing.

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Institute of Allergy and Infectious Diseases (NIAID): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• 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.

  PMID: 34400315 BACKGROUND

• Lyons 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.

  PMID: 29549114 BACKGROUND

• Lexmond 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.

  PMID: 27643438 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Amyloidosis, Primary Cutaneous; Hereditary alpha-tryptasemia syndrome; Dermatitis; Eosinophilia; Anaphylaxis

Condition Hierarchy (Ancestors)

Skin Diseases; Skin and Connective Tissue Diseases; Leukocyte Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Hypersensitivity, Immediate; Hypersensitivity; Immune System Diseases

Study Officials

• Pamela A Guerrerio, M.D.

  National Institute of Allergy and Infectious Diseases (NIAID)

  PRINCIPAL INVESTIGATOR

Study Design

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

Study Record Dates

• First Submitted: July 15, 2010
• First Posted: July 16, 2010
• Study Start: July 12, 2010
• Last Updated: April 1, 2026

Record last verified: 2025-10-22

Locations

US (1)