Cause and Natural Course of Pediatric-Onset Mastocytosis

Therapuetic Areas:Oncology
Age Range:Any - 21
Start Date:November 22, 2002
End Date:March 10, 2014

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Determining the Pathogenesis of Systemic Pediatric-Onset Mastocytosis

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.

Mastocytosis in infants and children is an unusual disease characterized by an excess of mast
cells in tissues. In pediatric onset mastocytosis, disease is usually localized to the skin
and disease is considered to be of limited duration. However, a subset of children appear to
develop a clinical picture resembling that observed in adults who have adult-onset disease.
This study will focus on children with more severe mastocytosis in an attempt to define its
pathogenesis, focusing on mutations and polymorphisms in genes regulating mast cell
proliferation and survival to determine if they might contribute to this disease pattern. If
severe pediatric-onset disease does not fit within the existing classification, new criteria
of diagnosis must be proposed for the pediatric age group.

This study will examine children and young adults age birth to 21 years with pediatric-onset
disease previously enrolled on NIAID mastocytosis protocols, or as a result of physician
referral, which have disease more consistent with adult-onset disease or parameters
associated with increased morbidity. The evaluation may include serum tryptase, blood count,
bone marrow biopsy and aspirate, morphology and mutational analysis. Subjects may be asked to
return in 12-24 months for assessment. If relevant mutation effecting mast cell growth and
function are identified, such mutations will be sought in the biologic parents as
appropriate, but only when such mutations are believed to be germ line (not somatic)
mutations. This study will aid in the understanding of the characteristics of severe
mastocytosis in the pediatric age group.


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

- Serum tryptase greater than 20ng/ml;

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


- 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


- A biological relative with or without 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


- Age greater than or equal to 21.0 years

- No primary care physician

- Has AIDS or is HIV Positive
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9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, MD
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