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Screening Protocol for Genetic Diseases of Allergic Inflammation and Mast Cell Homeostasis and Activation
This study is currently Recruiting
December 2010 By National Institutes of Health Clinical Center (CC)
First Recieved on February 26, 2009
Last Updated on August 19, 2011
- 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
- To screen mast cells at the genetic and functional levels to characterize
abnormalities, identify mutations, detect carrier states, and/or develop therapies for
- 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 250 participants in a 5-year period. One third
of the study population will consist of patients; the other two thirds will consist of
- 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 bl...
Resources/Links provided by NLM:
|Study Start Date:
|Estimated Primary Completion Date:
|Ages Eligible for Study:||N/A|
|Genders Eligible for Study:||Both|
|Accepts Healthy Volunteers:||No|
- INCLUSION CRITERIA:
- Subjects, ages birth to 80 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. 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 disease of allergic inflammation. 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/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.
- Women will be included in the study, including those who are lactating or may be
- Children will be included in the study.
- 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
- Subjects with a history of HIV or evidence of chronic Hepatitis B and/or C infection
will be excluded.