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Molecular Mechanisms and Diagnosis of Mastocytosis

This study has been completed.
Information provided by (Responsible Party):
Cem Akin, University of Michigan Identifier:
First received: June 8, 2006
Last updated: November 3, 2016
Last verified: November 2016
Mastocytosis is a disorder characterized by presence of excessive numbers of mast cells in skin, bone marrow and internal organs. It can affect both children and adults, males and females and individuals from all ethnic backgrounds, although precise demographic information about the affected populations is not available as it is a rare disorder. Mastocytosis in children is generally limited to the skin and follows a self limited course, while it is a disorder of the hematopoietic stem cell associated with somatic mutations of the c-kit gene in most patients with adult-onset of disease. There is no known curative therapy for most patients with systemic mastocytosis. Recent research studies identified several subtypes of disease with distinct clinical and pathologic features, however, a precise understanding of the incidence as well as molecular pathology of different disease subtypes is lacking. This study aims to examine molecular and cellular pathological aspects of disease in patients with mastocytosis and correlate findings with clinical presentation and prognosis. Patients will undergo a routine history and physical examination, and diagnostic tests will be ordered as dictated by each patient's clinical presentation. Blood and bone marrow will be obtained for diagnostic and research purposes. Genetic analysis of the c-kit gene regulating mast cell growth and differentiation will be performed. It is hoped that findings obtained from this study will help to design novel therapies for mastocytosis and other disorders in which mast cells play a critical role.

Condition Intervention
Mastocytosis Other: Collection of blood and bone marrow

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Investigation of Cellular and Molecular Pathologic Mechanisms in Mast Cell Disorders.

Resource links provided by NLM:

Further study details as provided by Cem Akin, University of Michigan:

Primary Outcome Measures:
  • Proportion of the patients with clonal and non-clonal mast cell disorders [ Time Frame: 1 week ]
    Patients were categorized into one of the clonal and non-clonal mast cell disorder categories after availability of diagnostic data

Secondary Outcome Measures:
  • Proportion of KIT D816V mutation in blood, bone marrow and sorted mast cells [ Time Frame: 1 week ]
    KIT D816V mutation was assessed in patient samples containing various proportions of neoplastic mast cells.

Biospecimen Retention:   Samples With DNA
Plasma and nucleic acid.

Enrollment: 136
Study Start Date: July 2004
Study Completion Date: July 2009
Primary Completion Date: December 2008 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Participants evaluated for mastocytosis
Observational study of all patients referred for suspected mast cell disease. Collection of blood or bone marrow for analysis during diagnostic procedures.
Other: Collection of blood and bone marrow
5-8 cc blood or bone marrow was additionally collected for analysis during diagnostic procedures. No assigned interventions.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with confirmed or suspected mast cell disease

Inclusion Criteria:

  • Confirmed or suspected diagnosis of mastocytosis.
  • Ability to give informed consent (by the patient or legal guardian if minor)

Exclusion Criteria:

  • Inability or not willing to provide informed consent.
  Contacts and Locations
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Please refer to this study by its identifier: NCT00336076

United States, Michigan
University of Michigan
Ann Arbor, Michigan, United States, 48109
Sponsors and Collaborators
University of Michigan
Principal Investigator: Cem Akin, M.D., Ph.D. University of Michigan
  More Information

Responsible Party: Cem Akin, Assistant Professor, University of Michigan Identifier: NCT00336076     History of Changes
Other Study ID Numbers: 2004-0246
Study First Received: June 8, 2006
Last Updated: November 3, 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by Cem Akin, University of Michigan:
Mast cell disease
Mastocytosis (suspected or proven)

Additional relevant MeSH terms:
Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Skin Diseases processed this record on September 19, 2017