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Molecular Mechanisms and Diagnosis of Mastocytosis

The recruitment status of this study is unknown because the information has not been verified recently.
Verified February 2009 by University of Michigan.
Recruitment status was  Recruiting
Information provided by:
University of Michigan Identifier:
First received: June 8, 2006
Last updated: February 12, 2009
Last verified: February 2009
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.


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 University of Michigan:

Biospecimen Retention:   Samples With DNA
Plasma and nucleic acid.

Estimated Enrollment: 200
Study Start Date: July 2004

Ages Eligible for Study:   Child, Adult, Senior
Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00336076

Contact: Cem Akin, M.D., Ph.D. 734-647-6234
Contact: Echo Reed 734-936-5634

United States, Michigan
University of Michigan Recruiting
Ann Arbor, Michigan, United States, 48109
Contact: Cem Akin, M.D., Ph.D.    734-647-6234   
Principal Investigator: Cem Akin, M.D., Ph.D.         
Sponsors and Collaborators
University of Michigan
Principal Investigator: Cem Akin, M.D., Ph.D. University of Michigan
  More Information

Responsible Party: Cem Akin, University of Michigan Identifier: NCT00336076     History of Changes
Other Study ID Numbers: 2004-0246 
Study First Received: June 8, 2006
Last Updated: February 12, 2009
Health Authority: United States: Institutional Review Board

Keywords provided by 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 October 21, 2016