Eosinophilic DiseaseNCT00852943
Screening Protocol for Genetic Diseases of Allergic Inflammation
An observational study of Eosinophilic Disease and Immune Deficiency, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial summary
Background: Mast cells are responsible for most symptoms of allergic reactions. In some allergic diseases, it is unusually easy to cause mast cells to release their contents and cause allergic reactions. In other cases, mast cells grow abnormally and, in rare cases, can result in tumors. Read more about this study
- Who is it for?
- Ages 1 day to 99 years
- Conditions the study is for
- Eosinophilic Disease, Immune Deficiency, HaTS
- How many people
- 834 participants
- Where
- 1 siteUnited States
- Study dates
- 2 Nov 2010to not given
- Phase
- Observational
- Are there results?
- None posted in the registry
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 1 day to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Disorders of allergic inflammation and mast cell homeostasis and activation.
Who may be able to join
- Subjects, ages birth to 99 years old, known to have or suspected of having an inherited or acquired genetic disorder resulting in severe allergic inflammation and/or reactivity associated with alterations in mast cell and/or eosinophil homeostasis or activation, will be eligible for enrollment. Because of the intensive time and labor required for research laboratory testing, subjects will be enrolled only if in the opinion of the investigator (based on discussions with the patient s private physician) there is a high index of suspicion of a genetic basis for the observed allergic manifestation(s).
- Blood relatives of enrolled subjects will be eligible for enrollment.
- There will be no discrimination as to age, gender, race, or disability.
- Subjects must have a health care provider outside of the NIH.
- Subjects must agree to have their blood stored for future studies of the immune system and/or other medical conditions.
Who cannot join
- Ongoing systemic immune modulation with agents such as biologics that target mast cells and eosinophils, immune modulating or cytotoxic chemotherapy, and/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.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Background:
- Mast cells are responsible for most symptoms of allergic reactions. In some allergic diseases, it is unusually easy to cause mast cells to release their contents and cause allergic reactions. In other cases, mast cells grow abnormally and, in rare cases, can result in tumors. Mast cells also control other parts of the immune system.
- Understanding why mast cells behave abnormally in allergic diseases is important to finding better ways for diagnosing and treating these potentially life-threatening disorders.
Read more
Objectives:
- To screen mast cells at the genetic and functional levels to characterize abnormalities, identify mutations, detect carrier states, and/or develop therapies for such disorders.
- To create a library of information about inherited diseases of mast cell homeostasis and activation, including piebaldism (problems with skin and hair pigmentation), anaphylaxis (severe allergic reaction), allergies, asthma, atopic dermatitis (eczema), allergic rhinitis ( hay fever ), food allergies, urticaria/angioedema (hives/swelling), immunodeficiency diseases, and autoimmune diseases.
Eligibility:
- Patients between the ages of 1 and 80 years who have been referred by a physician and are known to have or be suspected of having an inherited disorder of mast cells, in particular patients (and their relatives) with piebaldism, allergies, or anaphylaxis that is not caused by allergies.
Design:
- Study population will consist of up to 1000 participants in a 5-year period. One third of the study population will consist of patients; the other two thirds will consist of biological relatives.
- Evaluation is limited to testing on blood specimens; no treatment will be provided.
- Clinical and research laboratory evaluations of patients will include the following:
- Clinical evaluation and previous laboratory tests as documented in outside medical records by health care providers. A standard questionnaire will also be administered at the time of subject enrollment.
- Blood collection for clinical laboratory testing, tailored to each subject s clinical evaluation where appropriate (5 ml).
- Blood collection for research laboratory testing, tailored to each subject s clinical evaluation including genetic screening and assessment of mast cell growth and functioning and storage of additional frozen blood specimens for future studies (up to an additional 30 ml).
- Evaluations of blood relatives will include the following:
- Clinical evaluation as documented from outside medical records by health care providers and administration of a standard questionnaire.
- Blood collection where indicated for diagnostic or research purposes.
- After 12 consecutive months on the study, results from initial evaluation will be reviewed. Subjects with findings deemed to be of continued interest will be contacted and invited to remain as active participants to this protocol for another year, provided that they renew their consent to participate.
Read the detailed description
This protocol is designed to screen subjects (and some family members) with suspected or identified genetic diseases of allergic inflammation or mast cell homeostasis and activation. Patients determined by clinical history and initial outside evaluation by their referring physician 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, and/or buccal swabs from such patients and/or their family members will be obtained for research studies related to understanding the genetic and biochemical bases of these diseases. Outside medical records may be obtained for chart review to correlate clinical history to research laboratory testing results. Results will be relayed to the referring physicians and, where applicable, patients will be referred to other appropriate NIH protocols for additional clinical evaluation and treatment. The study will enroll up to 1000 subjects and family members.
- Keywords
- IMMUNODEFICIENCY DISEASES, GENETIC DISEASE, Inherited Allergic Disease, Allergy, Autoimmune Diseases, Natural History
- Medical subject headings
- Immunologic Deficiency Syndromes, Genetic Diseases, Inborn, Hypersensitivity, Autoimmune Diseases
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 |
|---|---|---|
| Patients | 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, will be eligible for enrollment. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Association of single gene mutations which are deemed causal with specific syndromic presentations of allergic disease, including atopic dermatitis, asthma, food allergy, eosinophilic disease, urticaria anaphylaxis, angioedema, IgE levels and ch...
Association of single gene mutations which are deemed causal with specific syndromic presentations of allergic disease, including atopic dermatitis, asthma, food allergy, eosinophilic disease, urticaria anaphylaxis, angioedema, IgE levels and changes to allergy-related effector cells.
Measured: end of study or until a gene is found
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Feb 2009 (estimated)
- Study start2 Nov 2010
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Eosinophilic DiseaseStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The 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
- 834 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Pamela A Frischmeyer-Guerrerio, M.D., Principal investigator, National Institute of Allergy and Infectious Diseases (NIAID)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00852943
- Sponsor's protocol ID
- 090086
- Other IDs
- 09-I-0086
- Status last verified
- 22 Jul 2026
- First submitted
- 26 Feb 2009
- Last updated
- 29 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening Protocol for Genetic Diseases of Allergic Inflammation
- ClinicalTrials.gov ID
- NCT00852943
- Acronym / sponsor ID
- 090086
- Keywords
- IMMUNODEFICIENCY DISEASES, GENETIC DISEASE, Inherited Allergic Disease, Allergy, Autoimmune Diseases, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 834 participants (actual)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 2 Nov 2010 (actual)
- First posted
- 27 Feb 2009 (estimated)
- 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.
Background:
- Mast cells are responsible for most symptoms of allergic reactions. In some allergic diseases, it is unusually easy to cause mast cells to release their contents and cause allergic reactions. In other cases, mast cells grow abnormally and, in rare cases, can result in tumors. Mast cells also control other parts of the immune system.
- Understanding why mast cells behave abnormally in allergic diseases is important to finding better ways for diagnosing and treating these potentially life-threatening disorders.
Objectives:
- To screen mast cells at the genetic and functional levels to characterize abnormalities, identify mutations, detect carrier states, and/or develop therapies for such disorders.
- To create a library of information about inherited diseases of mast cell homeostasis and activation, including piebaldism (problems with skin and hair pigmentation), anaphylaxis (severe allergic reaction), allergies, asthma, atopic dermatitis (eczema), allergic rhinitis ( hay fever ), food allergies, urticaria/angioedema (hives/swelling), immunodeficiency diseases, and autoimmune diseases.
Eligibility:
- Patients between the ages of 1 and 80 years who have been referred by a physician and are known to have or be suspected of having an inherited disorder of mast cells, in particular patients (and their relatives) with piebaldism, allergies, or anaphylaxis that is not caused by allergies.
Design:
- Study population will consist of up to 1000 participants in a 5-year period. One third of the study population will consist of patients; the other two thirds will consist of biological relatives.
- Evaluation is limited to testing on blood specimens; no treatment will be provided.
- Clinical and research laboratory evaluations of patients will include the following:
- Clinical evaluation and previous laboratory tests as documented in outside medical records by health care providers. A standard questionnaire will also be administered at the time of subject enrollment.
- Blood collection for clinical laboratory testing, tailored to each subject s clinical evaluation where appropriate (5 ml).
- Blood collection for research laboratory testing, tailored to each subject s clinical evaluation including genetic screening and assessment of mast cell growth and functioning and storage of additional frozen blood specimens for future studies (up to an additional 30 ml).
- Evaluations of blood relatives will include the following:
- Clinical evaluation as documented from outside medical records by health care providers and administration of a standard questionnaire.
- Blood collection where indicated for diagnostic or research purposes.
- After 12 consecutive months on the study, results from initial evaluation will be reviewed. Subjects with findings deemed to be of continued interest will be contacted and invited to remain as active participants to this protocol for another year, provided that they renew their consent to participate.
Detailed description
This protocol is designed to screen subjects (and some family members) with suspected or identified genetic diseases of allergic inflammation or mast cell homeostasis and activation. Patients determined by clinical history and initial outside evaluation by their referring physician 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, and/or buccal swabs from such patients and/or their family members will be obtained for research studies related to understanding the genetic and biochemical bases of these diseases. Outside medical records may be obtained for chart review to correlate clinical history to research laboratory testing results. Results will be relayed to the referring physicians and, where applicable, patients will be referred to other appropriate NIH protocols for additional clinical evaluation and treatment. The study will enroll up to 1000 subjects and family members.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients | – | –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, will be eligible for enrollment. |
Who may qualify
- Ages
- 1 day to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Disorders of allergic inflammation and mast cell homeostasis and activation.
Key inclusion criteria (5 listed)
- Subjects, ages birth to 99 years old, known to have or suspected of having an inherited or acquired genetic disorder resulting in severe allergic inflammation and/or reactivity associated with alterations in mast cell and/or eosinophil homeostasis or activation, will be eligible for enrollment. Because of the intensive time and labor required for research laboratory testing, subjects will be enrolled only if in the opinion of the investigator (based on discussions with the patient s private physician) there is a high index of suspicion of a genetic basis for the observed allergic manifestation(s).
- Blood relatives of enrolled subjects will be eligible for enrollment.
- There will be no discrimination as to age, gender, race, or disability.
- Subjects must have a health care provider outside of the NIH.
- 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)
- Ongoing systemic immune modulation with agents such as biologics that target mast cells and eosinophils, immune modulating or cytotoxic chemotherapy, and/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
Association of single gene mutations which are deemed causal with specific syndromic presentations of allergic disease, including atopic dermatitis, asthma, food allergy, eosinophilic disease, urticaria anaphylaxis, angioedema, IgE levels and ch...
Time frame: end of study or until a gene is found
Association of single gene mutations which are deemed causal with specific syndromic presentations of allergic disease, including atopic dermatitis, asthma, food allergy, eosinophilic disease, urticaria anaphylaxis, angioedema, IgE levels and changes to allergy-related effector cells.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Oct 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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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. This study is not recruiting at the moment.
Pamela A Frischmeyer-Guerrerio, M.D. principal investigator
National Institute of Allergy and Infectious Diseases (NIAID)
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 Eosinophilic Disease and Immune Deficiency, run by National Institute of Allergy and Infectious Diseases (NIAID) 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: finished, as of the sponsor's last update on 29 Oct 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Association of single gene mutations which are deemed causal with specific syndromic presentations of allergic disease, including atopic dermatitis, asthma, food allergy, eosinophilic disease, urticaria anaphylaxis, angioedema, IgE levels and ch... (time frame: end of study or until a gene is found). 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 29 Oct 2026.