Protocol Number: 03-I-0041

Title:

Determining the Pathogenesis of Systemic Pediatric-Onset Mastocytosis

Number:

03-I-0041

Summary:

This study will evaluate children with mastocytosis, a disease of excessive mast cells in tissues such as skin and bone marrow, to identify the cause of the disease and describe its course. Mast cells can release chemicals that cause itching, blisters, flushing, bone pain, and abdominal pain. Usually, mastocytosis in children involves the skin only and is of limited duration. This study, however, will focus on children with more severe disease that more closely resembles adult-onset mastocytosis.

Patients up to 21 years of age with childhood-onset mastocytosis may be eligible for this study. Candidates must have one or more of the following abnormalities, which indicate severe disease: enlarged liver or spleen; diffuse skin involvement; history of gastrointestinal bleeding or peptic ulcer; bone marrow biopsy with abnormal mast cells either in number or shape; elevated blood levels of the enzyme tryptase; or abnormal hemoglobin, white blood cells, platelets, or clotting factors.

Participants will have a medical history and physical examination; various blood tests, including studies to identify genetic changes that are important in the growth, development, and functioning of human mast cells; and bone marrow aspiration and biopsy. For the bone marrow procedure, the skin over the hipbone and the outer surface of the bone itself are numbed with an injection of local anesthesia. Then, a special needle is inserted into the hipbone and about 2 tablespoons of bone marrow are drawn into a syringe. Another needle is then inserted through the first needle to collect a small piece of the bone marrow. Pain will be managed according to the individual patient's needs. Additional procedures, such as a gastroenterology consultation, colonoscopy to examine the colon, or computerized axial tomography (CT) or ultrasound of the abdomen to assess the liver and spleen, may be done if medically indicated. Standard medical treatment, including antihistamines for itching or steroids for abdominal cramping or diarrhea, will be recommended as appropriate.

Patients' biologic parents may also be enrolled to provide a blood sample for genetic analysis and a bone marrow aspirate and biopsy for clinical and research purposes.

Patients will return to NIH once a year for follow-up evaluations until their disease is stable or until the 5-year study ends.

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:

Children with tissue-diagnosed pediatric-onset mastocytosis formerly enrolled in protocols 90-I-0120, and 93-I-0136 or per physician referral with more severe disease as indicated by one of the following parameters:

Hepatomegaly or splenomegaly;

Diffuse cutaneous mastocytosis;

History of gastrointestinal bleeding or peptic ulcer disease;

Bone marrow biopsy with abnormal numbers or shaped mast cells or abnormal flow cytometry;

Serum tryptase greater than 20ng/ml;

Hematologic abnormalities such as an increase WBC, thrombocytosis, and/or an increase in PT and/or PTT.

INCLUSION CRITERIA-SUBJECT:

Age birth to 21.0 years of age at the time of entry into the protocol.

Diagnosis of mastocytosis by skin examination or histologic evidence in a skin or bone marrow biopsy.

Subject has a primary medical care provider outside the NIH.

Subject or parent or guardian is able to give informed consent.

INCLUSION CRITERIA - PARENT:

A child with the diagnosis of mastocytosis by skin examination or histologic evidence in a skin or bone marrow biopsy.

Subject has a primary medical care provider outside the NIH.

EXCLUSION CRITERIA - SUBJECT:

Age greater than or equal to 21.0 years.

No primary care physician.

Special Instructions:

Currently Not Provided

Keywords:

Children

Mast Cells

Urticaria Pigmentosa

Bone Marrow

Severe

Recruitment Keyword(s):

Mastocytosis

Pediatric Mastocytosis

Condition(s):

Mastocytosis

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):

Kettelhut BV, Metcalfe DD. Pediatric mastocytosis. Ann Allergy. 1994 Sep;73(3):197-202; quiz 202-7. Review.

Kirshenbaum AS, Goff JP, Kessler SW, Mican JM, Zsebo KM, Metcalfe DD. Effect of IL-3 and stem cell factor on the appearance of human basophils and mast cells from CD34+ pluripotent progenitor cells. J Immunol. 1992 Feb 1;148(3):772-7.

Dvorak AM, Seder RA, Paul WE, Morgan ES, Galli SJ. Effects of interleukin-3 with or without the c-kit ligand, stem cell factor, on the survival and cytoplasmic granule formation of mouse basophils and mast cells in vitro. Am J Pathol. 1994 Jan;144(1):160-70.

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