NCT00852943

Screening Protocol for Genetic Diseases of Allergic Inflammation

Completed Last updated 14 April 2026

What this trial tests

trial in Eosinophilic Disease in 824 participants. Completed.

Timeline

2 November 2010

Quick facts

Lead sponsor	National Institute of Allergy and Infectious Diseases (NIAID)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	824
Start date	2 November 2010
Sites	1 location across United States

Conditions studied

• Eosinophilic Disease — all drugs for Eosinophilic Disease →
• Immune Deficiency — all drugs for Immune Deficiency →
• HaTS — all drugs for HaTS →
• Urticaria Anaphylaxis — all drugs for Urticaria Anaphylaxis →

Sponsor

National Institute of Allergy and Infectious Diseases (NIAID)

Who can join

Adults 1 Day to 99, any sex, with Eosinophilic Disease or Immune Deficiency. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.
   Lyons JJ, Yu X, Hughes JD, Le QT, et al · · 2016 · cited 294× · PMID 27749843 · DOI 10.1038/ng.3696
2. Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia.
   Le QT, Lyons JJ, Naranjo AN, Olivera A, et al · · 2019 · cited 105× · PMID 31337736 · DOI 10.1084/jem.20190701
3. Defining baseline variability of serum tryptase levels improves accuracy in identifying anaphylaxis.
   Mateja A, Wang Q, Chovanec J, Kim J, et al · · 2022 · cited 60× · PMID 34425177 · DOI 10.1016/j.jaci.2021.08.007
4. Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms.
   Chovanec J, Tunc I, Hughes J, Halstead J, et al · · 2023 · cited 49× · PMID 36170795 · DOI 10.1182/bloodadvances.2022007936
5. Distinct Small Intestine Mast Cell Histologic Changes in Patients With Hereditary Alpha-tryptasemia and Mast Cell Activation Syndrome.
   Hamilton MJ, Zhao M, Giannetti MP, Weller E, et al · · 2021 · cited 34× · PMID 33481382 · DOI 10.1097/pas.0000000000001676
6. Small intestinal immunopathology and GI-associated antibody formation in hereditary alpha-tryptasemia.
   Konnikova L, Robinson TO, Owings AH, Shirley JF, et al · · 2021 · cited 25× · PMID 33865872 · DOI 10.1016/j.jaci.2021.04.004
7. Clinical response to omalizumab in patients with hereditary α-tryptasemia.
   Mendoza Alvarez LB, Barker R, Nelson C, DiMaggio T, et al · · 2020 · cited 21× · PMID 31605754 · DOI 10.1016/j.anai.2019.09.026
8. Human germline biallelic loss-of-function <i>OSMR</i> variants cause severe allergic disease.
   Samra S, Sharma M, Körholz J, Liu Y, et al · · 2026 · PMID 42221229 · DOI 10.70962/jhi.20260067