Molecular Mechanisms and Diagnosis of Mastocytosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00336076
Recruitment Status : Completed
First Posted : June 12, 2006
Last Update Posted : November 7, 2016
Information provided by (Responsible Party):
Cem Akin, University of Michigan

Brief Summary:
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 or disease Intervention/treatment
Mastocytosis Other: Collection of blood and bone marrow

Study Type : Observational
Actual Enrollment : 136 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Investigation of Cellular and Molecular Pathologic Mechanisms in Mast Cell Disorders.
Study Start Date : July 2004
Actual Primary Completion Date : December 2008
Actual Study Completion Date : July 2009

Resource links provided by the National Library of Medicine

Group/Cohort Intervention/treatment
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.

Primary Outcome Measures :
  1. 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 :
  1. 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.

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): 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

Responsible Party: Cem Akin, Assistant Professor, University of Michigan Identifier: NCT00336076     History of Changes
Other Study ID Numbers: 2004-0246
First Posted: June 12, 2006    Key Record Dates
Last Update Posted: November 7, 2016
Last Verified: November 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