Immune DeficiencyNCT05584488
Allergy and Immunology Natural History Study
An observational study of Immune Deficiency and Immune Dysregulation Disorder, run by Columbia University at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 99 yearsHealthy volunteers can take part
- Conditions the study is for
- Immune Deficiency, Immune Dysregulation Disorder, Allergic Inflammation
- How many people
- 10,000 participants
- Where
- 1 siteUnited States
- Study dates
- 16 Jul 2010to Jan 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 99 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Columbia University Irving Medical Center / NewYork-Presbyterian Hospital
New York, New York, 10032
Yannett Franklin, 212-305-0473, ym206@cumc.columbia.edu
Alexis Boneparth, MD
About this study
Official title: 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.
Read the 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
- Keywords
- Eosinophilic Disease, Anaphylaxis, Elevated IgE levels, Autoimmune diseases, Allergy, Asthma, Atopic Dermatitis, Allergic Fhinitis, Food Allergy, Immunodeficiency Diseases, Immunodysregulatory Diseases, Piebaldism, Urticaria, Angioedema
- Medical subject headings
- Immunologic Deficiency Syndromes, Anaphylaxis, Autoimmune Diseases, Hypersensitivity, Asthma, Dermatitis, Atopic, Food Hypersensitivity, Piebaldism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Inherited diseases of allergic inflammation or immune dysregulation | Patients and blood relatives with disorders of allergic inflammation and immune dysregulation. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Total number of underlying susceptibility trait(s) identified
The primary endpoint will be the determination of the underlying susceptibility trait(s).
Measured: Up to 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Oct 2022
- Study start16 Jul 2010
- Primary completionJan 2027 (estimated)
- Study completionJan 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Immune DeficiencyStudies of the same condition, open and under way.
- More trials run by Columbia UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 10,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Columbia University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Joshua D. Milner, MD, Principal investigator, Columbia University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05584488
- Sponsor's protocol ID
- AAAS7006
- Status last verified
- Feb 2026
- First submitted
- 14 Oct 2022
- Last updated
- 4 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study for Genetic Diseases of Allergic Inflammation and Immune Dysregulation
- ClinicalTrials.gov ID
- NCT05584488
- Acronym / sponsor ID
- AAAS7006
- Keywords
- Eosinophilic Disease, Anaphylaxis, Elevated IgE levels, Autoimmune diseases, Allergy, Asthma, Atopic Dermatitis, Allergic Fhinitis
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 10,000 participants (estimated)
- Lead sponsor
- Columbia UniversityUniversity, hospital or other
- Study start
- 16 Jul 2010 (actual)
- Primary completion
- Jan 2027 (estimated)
- Study completion
- Jan 2027 (estimated)
- First posted
- 18 Oct 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Inherited diseases of allergic inflammation or immune dysregulation | – | –Patients and blood relatives with disorders of allergic inflammation and immune dysregulation. |
Who may qualify
- Ages
- Up to 99 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (1 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Feb 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Joshua D. Milner, MD principal investigator
Columbia University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Immune Deficiency and Immune Dysregulation Disorder, run by Columbia University at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 4 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Joshua D. Milner, MD (212-305-2100, jdm2249@cumc.columbia), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Total number of underlying susceptibility trait(s) identified (time frame: Up to 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Feb 2026.