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Determining the Pathogenesis of Systemic Pediatric-Onset Mastocytosis

21 Years
Open (Enrolling)

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Trial Information

Determining the Pathogenesis of Systemic Pediatric-Onset Mastocytosis

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.

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

- 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

Type of Study:


Study Design:


Principal Investigator

Melody C Carter, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Institute of Allergy and Infectious Diseases (NIAID)


United States: Federal Government

Study ID:




Start Date:

November 2002

Completion Date:

Related Keywords:

  • Mastocytosis
  • Children
  • Mast Cells
  • Urticaria Pigmentosa
  • Bone Marrow
  • Severe
  • Mastocytosis
  • Pediatric Mastocytosis
  • Mastocytosis
  • Urticaria Pigmentosa
  • Mastocytoma



National Institutes of Health Clinical Center, 9000 Rockville Pike Bethesda, Maryland  20892