| City: |
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Bethesda |
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State:
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MD |
| Zip Code: |
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20892 |
| Conditions: |
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Piebaldism - Idiopathic Anaphylaxis - Allergy - Chronic Urticara - Angioedema |
| Purpose: |
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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 250 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 bl...
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| Study summary: |
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This protocol is designed to screen subjects (and some family members) with suspected or
identified genetic diseases of 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 or stored products
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 will 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 National Institutes of Health
protocols for additional clinical evaluation and treatment. The study will enroll up to 250
subjects and family members over the next 5 years. |
| Criteria: |
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- INCLUSION CRITERIA:
- Subjects, ages birth to 80 years old, known to have or suspected of having an
inherited disorder of mast cell homeostasis or activation, in particular patients
with piebaldism or idiopathic anaphylaxis, will be eligible for enrollment. In the
latter case, 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 mast cell disorder. 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
pregnant.
- Children will be included in the study.
EXCLUSION CRITERIA:
- 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.
- Subjects with a history of HIV or evidence of chronic Hepatitis B and/or C infection
will be excluded. |
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| Study is available at: |
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National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, MD 20892
United States
Primary Contact:
Patient Recruitment and Public Liaison Office
Email: prpl@mail.cc.nih.gov
Phone: (800) 411-1222 |
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If you are interested in this clinical trial please use the contact information above. If you would like to get additional information about this clinical trial please visit ClinicalTrials.gov.
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| Data Source: |
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ClinicalTrials.gov |
| Date Processed: |
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March 23, 2011 |
Modifications to
this listing: |
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Only selected fields are shown, please use the link
above to view all information about this clinical trial. |
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