Allergy and Immunology Natural History Study

NCT05584488 | Recruiting

• 1 other identifier: AAAS7006
• Study Type: observational
• Target: 10,000
• Locations: 1 country
• Sites: 1

Brief Summary

This protocol is a natural history study designed to evaluate subjects (and some family members) with suspected or identified genetic diseases of allergic inflammation or Immune Dysregulation. Patients determined by clinical history and outside evaluations to be of interest will be consented and enrolled into this study. Blood specimens, stored blood products and derivatives, saliva, hair, fingernail clippings, cord blood, umbilical cord, bone marrow, tissue biopsies and/or buccal swabs from such patients and/or their family members will be obtained for research studies related to understanding genetic and immunopathogenic bases of these diseases. Outside medical records may be obtained, and patient evaluations may be performed to correlate to research laboratory testing results.

Conditions

Immune Deficiency; Immune Dysregulation Disorder; Allergic Inflammation

Keywords

Eosinophilic Disease; Anaphylaxis; Elevated IgE levels; Autoimmune diseases; Allergy; Asthma; Atopic Dermatitis; Allergic Fhinitis; Food Allergy; Immunodeficiency Diseases; Immunodysregulatory Diseases; Piebaldism; Urticaria; Angioedema

Outcome Measures

Primary Outcomes (1)

• Total number of underlying susceptibility trait(s) identified

  The primary endpoint will be the determination of the underlying susceptibility trait(s).

  Up to 1 year

Study Arms (1)

Inherited diseases of allergic inflammation or immune dysregulation

Patients and blood relatives with disorders of allergic inflammation and immune dysregulation.

Eligibility Criteria

• Age: Up to 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

The total study population for this protocol is up to 10,000 subjects. It is estimated that one half of the total study population will consist of subjects, with the remaining half being biological relatives. Subjects and relatives may be enrolled.

You may qualify if:

• Subjects, ages birth to 99 years old, known to have or suspected of having an inherited disorder of allergic inflammation, or mast cell homeostasis, or activation or immune dysregulation.
• Blood relatives of enrolled subjects will be eligible for enrollment.
• There will be no discrimination as to age, gender, race, or disability.
• Subjects/guardians must be willing and able to give informed consent.
• Subjects must agree to have their blood stored for future studies of the immune system and/or other medical conditions.

Sponsors & Collaborators

• Columbia University: lead

Study Sites (1)

Columbia University Irving Medical Center / NewYork-Presbyterian Hospital

New York, New York, 10032, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood specimens, stored blood samples, stored blood products (including cells, DNA, RNA, and protein), saliva, hair, finger nail clippings, cord blood, umbilical cord, tissue biopsy, bone marrow and/or buccal swabs will be obtained from patients and/or their blood relatives.

MeSH Terms

Conditions

Immunologic Deficiency Syndromes; Anaphylaxis; Autoimmune Diseases; Hypersensitivity; Asthma; Dermatitis, Atopic; Food Hypersensitivity; Piebaldism; Urticaria; Angioedema

Condition Hierarchy (Ancestors)

Immune System Diseases; Hypersensitivity, Immediate; Bronchial Diseases; Respiratory Tract Diseases; Lung Diseases, Obstructive; Lung Diseases; Respiratory Hypersensitivity; Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Dermatitis; Skin Diseases; Skin and Connective Tissue Diseases; Skin Diseases, Eczematous; Albinism; Eye Diseases, Hereditary; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Hypopigmentation; Pigmentation Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Skin Diseases, Vascular; Vascular Diseases; Cardiovascular Diseases

Study Officials

• Joshua D. Milner, MD

  Columbia University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Joshua D. Milner, MD

CONTACT

212-305-2100; jdm2249@cumc.columbia

Yannett Franklin

CONTACT

212-305-0473; ym206@cumc.columbia.edu

Study Design

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

Study Record Dates

• First Submitted: October 14, 2022
• First Posted: October 18, 2022
• Study Start: July 16, 2010
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): January 1, 2027
• Last Updated: February 4, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)