Protocol Number: 09-I-0086

Title:

Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and Activation

Number:

09-I-0086

Summary:

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 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.

Sponsoring Institute:

National Institute of Allergy and Infectious Diseases (NIAID)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: Yes

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

- Subjects, ages 1-80 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.

Special Instructions:

Currently Not Provided

Keywords:

Mast Cells

Piebaldism

Anaphylaxis

Allergy

Genetics

Recruitment Keyword(s):

Anaphylaxis

Allergy

Mast Cells

Condition(s):

Piebaldism

Idiopathic Anaphylaxis

Allergy

Chronic Urticara

Angioedema

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Institute of Allergy and Infectious Diseases

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citation(s):

Nagata H, Worobec AS, Oh CK, Chowdhury BA, Tannenbaum S, Suzuki Y, Metcalfe DD. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci U S A. 1995 Nov 7;92(23):10560-4.

Worobec AS, Semere T, Nagata H, Metcalfe DD. Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with astocytosis. Cancer. 1998 Nov 15;83(10):2120-9.

Kirshenbaum AS, Goff JP, Semere T, Foster B, Scott LM, Metcalfe DD. Demonstration that human mast cells arise from a progenitor cell population that is CD34(+), c-kit(+), and expresses aminopeptidase N (CD13). Blood. 1999 Oct 1;94(7):2333-42.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Clinical Research Informatics, CC.

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