Recruiting

Genetic Diseases

Sponsor:

Columbia University

Code:

NCT05584488

Conditions

Immune Deficiency

Immune Dysregulation Disorder

Allergic Inflammation

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Study Details

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

Study ID

NCT05584488

Start date

Jul 16, 2010

Status verified date

Feb, 2026

Completion date

Jan, 2027

Anticipated

Primary completion date

Jan, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

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 Design

Enrollment

10000 participants

Anticipated

Interventions and Outcome Measures

Arms

Inherited diseases of allergic inflammation or immune dysregulation

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

Primary outcome measure

  • Total number of underlying susceptibility trait(s) identified [ Time Frame: Up to 1 year ]

Central Contacts and Locations

Central contacts

Joshua D. Milner, MD

212-305-2100jdm2249@cumc.columbia

Yannett Franklin

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

Locations

Columbia University Irving Medical Center / NewYork-Presbyterian Hospital

Recruiting

New York, New York, United States, 10032

Contacts

Yannett Franklin

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

Principal Investigator:

Joshua Milner, MD

More Information

Sponsor

Columbia University

Last update posted

Feb 4, 2026

Last verified

Feb, 2026

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Columbia University on 2026-02-04.