Allergy and Immunology Natural History Study

February 2, 2026 updated by: Columbia University

Natural History Study for Genetic Diseases of Allergic Inflammation and Immune Dysregulation

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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

Studying patients with suspected genetic diseases with features of atopy or affecting atopic pathways, both known and novel disorders, will provide critical populations for understanding atopic pathways and mechanisms of allergic inflammation in atopic dermatitis, and atopic diseases in general. This investigation will include patients with atopic diseases and other related syndromes and both their healthy and ill family members. The goal of these studies is to advance understanding of the genetic and immunologic basis of disorders of allergic inflammation, leading to the development of improved methods for the diagnosis and management of patients with atopic diseases, immunodeficiency, and immune dysregulatory diseases. Immune dysregulation diseases comprise a group of disorders that can trigger defective or uncontrolled immune responses and are characterized by autoimmunity, episodes of recurrent autoinflammation, dysregulation of lymphocyte homeostasis, or hypersensitivity reactions. In addition to classical atopy, the investigators also use this line of research to further study other abnormalities affecting immune dysregulation. Patients with idiopathic anaphylaxis are also of interest.

The continued dissection of the genetic and biochemical bases of known and, as yet, undiscovered defects will have an impact beyond the mast cell and will contribute to the development of new therapies. This investigation will include patients with these and other related syndromes and both their healthy and ill family members. Moreover, these studies will continue to provide a wealth of information about the regulation of allergy and mast cell homeostasis in normal individuals. Research into these fundamental processes will help provide an understanding of how conditions of immediate hypersensitivity and cancers generally arise, and could lead to new preventative measures, diagnostic tests, treatments, or cures for these conditions.

The investigators propose to evaluate subjects who may have, or are suspected of having, inherited diseases of allergic inflammation or Immune Dysregulation which may include the following diseases:

  • Autoimmune diseases
  • Anaphylaxis
  • Allergy
  • Asthma
  • Atopic dermatitis
  • Allergic rhinitis
  • Food allergy
  • Immunodeficiency diseases
  • Immunodysregulatory diseases
  • Piebaldism
  • Urticaria/angioedema

Study Type

Observational

Enrollment (Estimated)

10000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • New York
      • New York, New York, United States, 10032
        • Recruiting
        • Columbia University Irving Medical Center / NewYork-Presbyterian Hospital
        • Contact:
        • Sub-Investigator:
          • Joyce Yu, MD
        • Sub-Investigator:
          • Alexis Boneparth, MD
        • Sub-Investigator:
          • Manar Abdalgani, MBBS
        • Sub-Investigator:
          • Emily Mace, PhD
        • Principal Investigator:
          • Joshua Milner, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 99 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

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.

Description

Inclusion Criteria:

  • 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.

Exclusion Criteria:

• The presence of an acquired abnormality of the immune system, such as cytotoxic chemotherapy or malignancy may be grounds for possible exclusion if, in the opinion of the investigator, the presence of such a disease process would interfere with evaluation.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Inherited diseases of allergic inflammation or immune dysregulation
Patients and blood relatives with disorders of allergic inflammation and immune dysregulation.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Total number of underlying susceptibility trait(s) identified
Time Frame: Up to 1 year
The primary endpoint will be the determination of the underlying susceptibility trait(s).
Up to 1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Columbia University

Investigators

  • Principal Investigator: Joshua D. Milner, MD, Columbia University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 16, 2010

Primary Completion (Estimated)

January 1, 2027

Study Completion (Estimated)

January 1, 2027

Study Registration Dates

First Submitted

October 14, 2022

First Submitted That Met QC Criteria

October 14, 2022

First Posted (Actual)

October 18, 2022

Study Record Updates

Last Update Posted (Actual)

February 4, 2026

Last Update Submitted That Met QC Criteria

February 2, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • AAAS7006

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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