Screening Protocol for Genetic Diseases of Allergic Inflammation
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|ClinicalTrials.gov Identifier: NCT00852943|
Recruitment Status : Recruiting
First Posted : February 27, 2009
Last Update Posted : January 15, 2019
- 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.
- 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.
- 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.
- 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.
|Condition or disease|
|Piebaldism Idiopathic Anaphylaxis Allergy Chronic Urticara Angioedema|
|Study Type :||Observational|
|Estimated Enrollment :||1000 participants|
|Official Title:||Screening Protocol for Genetic Diseases of Allergic Inflammation|
|Study Start Date :||February 25, 2009|
- Designed to screen subjects with suspected or identified genetic diseases of allergic inflammation or of mast cell homeostasis and activation. Blood specimens will be obtained for research studies related to understanding the genetic and biochem...
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00852943
|Contact: Thomas H Dimaggio, R.N.||(301) firstname.lastname@example.org|
|Contact: Kelly D Stone, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Kelly D Stone, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|