Natural History and Genetics of Food Allergy and Related Conditions

NCT02504853 | Recruiting

• 2 other identifiers: 15016215-I-0162
• Study Type: observational
• Target: 1,800
• Locations: 1 country
• Sites: 1

Brief Summary

Background: \- About 15 million Americans have a food allergy. Because there are no cures or effective prevention or treatment for food allergies, researchers want to learn more about them. Objective: \- To learn more about the causes and effects of food allergy and related conditions. Eligibility:

• People ages 2 99 who have food allergy and/or a related genetic or other condition
• Their relatives
• Healthy relatives and volunteers Design:
• Participants will have at least 3 visits over 1 2 years, and then once a year for up to 12 years. Each may last a day or longer.
• Participants will be screened with medical history, physical exam, and questionnaires.
• Participants may have the following:
• Blood tests
• Allergy skin prick tests: Drops of allergens are placed on the back or arm. The skin is scratched under each drop.
• Leukapheresis: blood is taken from a needle in one arm, passed through a machine, and returned through a needle in the other arm.
• X-rays
• Esophageal string test: One end of a string is taped to the cheek and the other end is packed into a capsule. When the capsule is swallowed, the string unwinds; it is left in for at least 1 hour.
• EGD and colonoscopy: Biopsies are taken from the gastrointestinal system.
• Tiny biopsies of skin
• Photographs of the body
• Collection of cells through:
• Swab of nose, inside of cheek, or skin
• Gentle skin scrape
• Tape stripping: piece of tape is put on the skin and pulled off.

Conditions

Food Allergy; Loeys-Dietz Syndrome; Atopic Dermatitis; Eosinophilic Esophagitis

Keywords

Eosinophilic Esophagitis; Loeys-Dietz Syndrome; Atopic Dermatitis; TGFbeta; Natural History

Outcome Measures

Primary Outcomes (2)

• Investigate the key genetic, cellular, immunologic, microbial, and biochemical pathways that lead to the development of food allergy

  Investigate the key genetic, cellular, immunologic, microbial, and biochemical pathways that lead to the development of food allergy

  06/15/2025

• Identify biomarkers that predict the clinical course and natural history of patients with food allergy

  Identify biomarkers that predict the clinical course and natural history of patients with food allergy

  06/15/2025

Secondary Outcomes (3)

• The prevalence of eosinophilic GI disease in patients who might be considered to be at high risk for these conditions, including those patients with atopic dermatitis and/or multiple food sensitivities/allergies

  06/15/2025

• In vitro testing of novel therapies for food allergy using cells and other biological specimens obtained from patients with food allergy

  06/15/2025

• Identification of nutritional deficiencies and their effect on the growth and overall health of patients with food allergy and related conditions

  06/15/2025

Study Arms (4)

Affected Genetic

Have a suspected genetic or congenital disorder potentially associated with food allergy or related condition, as determined by the principal investigator (PI) or associate investigators (AIs).

Affected Non-Syndromic Food

Individuals with a clinical history of immediate hypersensitivity reaction to foods and sensitized to food allergen(s) as evidenced by SPT or allergen-specific IgE testing.

Allergic GI Disease

Individuals with a diagnosis or clinical suspicion of eosinophilic esophagitis (EoE), as determined by the principal investigator (PI) or associate investigators (AIs).

Unaffected Relative / Healthy Volunteer

Unaffected relatives are relatives of affected; unaffected by food allergy or the genetic condition under study. Healthy volunteers are not related to affected and serve as controls.

Eligibility Criteria

• Age: 1 Day - 99 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

primary clinical

You may qualify if:

• All participants must meet the following criteria:
• Be 2 to 99 years-old at the time of enrollment for participants who will be seen at the NIH CC; be 0 (newborn) to 99 years-old at the time of enrollment for participants who will submit mail-in samples or participate in telehealth visits. Only viable neonates will be enrolled.
• Willing to allow storage of blood, buccal swabs, saliva, nasal swabs, stool samples, and other clinically appropriate tissue specimens for future use in medical research
• Required to have a primary care or other physician who will manage all health conditions related or unrelated to the study objectives
• In addition to the general criteria listed above, affected participants must meet 1 of the following criteria:
• Have a clinical history of an immediate hypersensitivity reaction to food(s) and be sensitized to food allergen(s) (as evidenced by positive SPT or allergen-specific IgE testing)
• Be sensitized (as evidenced by positive SPT or allergen-specific IgE testing) to food allergen(s) but have no overt clinical history of IgE-mediated symptoms when they eat that food(s)
• Have a suspected genetic or congenital disorder potentially associated with food allergy or related condition, as determined by the principal investigator (PI) or associate investigators (AIs)
• Have a diagnosis of eosinophilic esophagitis (EoE), or clinical suspicion for EoE as determined by the principal investigator (PI) or associate investigators (AIs)
• Have a history of atopic dermatitis based on self-report or physician assessment.
• In addition to the general criteria listed above, unaffected relatives must meet the following criteria:
• Be a relative of an affected participant
• Be unaffected by food allergy (as determined by clinical history and/or allergy testing) or be unaffected by the genetic condition under study
• In addition to the general criteria listed above , healthy volunteers must meet the following criteria:
• Be unrelated to an affected participant

You may not qualify if:

• Participants will be excluded for any of the following:
• Presence of conditions that, in the judgment of the investigator or the referring physician, may put the participant at undue risk or make them unsuitable for participation in the study.
• Inability to participate for the duration of the study.
• The PI deems that participation in the study would not be expected to advance the study goals.
• uncontrolled asthma or Grade 3 or higher by the American Society of Anesthesiologist s. Physical Status Classification System (http://www.asahq.org/resources/clinicalinformation/.asa-physical-status-classification-system)
• history of adverse reaction to conscious sedation or general anesthesia required for endoscopy
• hemoglobin \< 11 g/dL
• platelet count \< 100,000 microL
• PT INR \>1.3 or PTT prolonged by \> 3 seconds
• pregnant or breastfeeding
• viral screens positive for HIV or hepatitis B or C
• severe unstable myocardial ischemia or cardiomyopathy
• severe hypoxemia due to chronic pulmonary disease
• recent abdominal surgery
• anticoagulant therapy that cannot be interrupted

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

RECRUITING

Related Publications (3)

• Boyce JA, Assa'ad A, Burks AW, Jones SM, Sampson HA, Wood RA, Plaut M, Cooper SF, Fenton MJ, Arshad SH, Bahna SL, Beck LA, Byrd-Bredbenner C, Camargo CA Jr, Eichenfield L, Furuta GT, Hanifin JM, Jones C, Kraft M, Levy BD, Lieberman P, Luccioli S, McCall KM, Schneider LC, Simon RA, Simons FE, Teach SJ, Yawn BP, Schwaninger JM. Guidelines for the diagnosis and management of food allergy in the United States: summary of the NIAID-sponsored expert panel report. Nutr Res. 2011 Jan;31(1):61-75. doi: 10.1016/j.nutres.2011.01.001. No abstract available.

  PMID: 21310308 BACKGROUND

• Noval Rivas M, Burton OT, Wise P, Zhang YQ, Hobson SA, Garcia Lloret M, Chehoud C, Kuczynski J, DeSantis T, Warrington J, Hyde ER, Petrosino JF, Gerber GK, Bry L, Oettgen HC, Mazmanian SK, Chatila TA. A microbiota signature associated with experimental food allergy promotes allergic sensitization and anaphylaxis. J Allergy Clin Immunol. 2013 Jan;131(1):201-12. doi: 10.1016/j.jaci.2012.10.026. Epub 2012 Nov 30.

  PMID: 23201093 BACKGROUND

• Frischmeyer-Guerrerio PA, Guerrerio AL, Oswald G, Chichester K, Myers L, Halushka MK, Oliva-Hemker M, Wood RA, Dietz HC. TGFbeta receptor mutations impose a strong predisposition for human allergic disease. Sci Transl Med. 2013 Jul 24;5(195):195ra94. doi: 10.1126/scitranslmed.3006448.

  PMID: 23884466 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Food Hypersensitivity; Loeys-Dietz Syndrome; Dermatitis, Atopic; Eosinophilic Esophagitis; Camurati-Engelmann Syndrome

Condition Hierarchy (Ancestors)

Hypersensitivity, Immediate; Hypersensitivity; Immune System Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Aortic Aneurysm; Aneurysm; Vascular Diseases; Cardiovascular Diseases; Aortic Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Skin Diseases, Genetic; Dermatitis; Skin Diseases; Skin and Connective Tissue Diseases; Skin Diseases, Eczematous; Esophagitis; Esophageal Diseases; Gastrointestinal Diseases; Digestive System Diseases; Gastroenteritis; Eosinophilia; Leukocyte Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases

Study Officials

• Pamela A Guerrerio, M.D.

  National Institute of Allergy and Infectious Diseases (NIAID)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ellen Zektser, R.N.

CONTACT

Not Listed; niaidfars@niaid.nih.gov

Pamela A Guerrerio, M.D.

CONTACT

(301) 402-9782; pamela.guerrerio@nih.gov

Study Design

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

Study Record Dates

• First Submitted: July 21, 2015
• First Posted: July 22, 2015
• Study Start: July 29, 2015
• Primary Completion (Estimated): June 15, 2026
• Study Completion (Estimated): June 15, 2026
• Last Updated: April 1, 2026

Record last verified: 2025-12-04

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, ANALYTIC CODE
• Time Frame: 6 months after publication.
• Access Criteria: Data that requires public reporting to be deposited in public databases, data required to be in publications, and data required for collaborations.

Locations

US (1)