Molecular Mechanisms and Diagnosis of Mastocytosis

Mastocytosis Clinical Trial

Official title:

Investigation of Cellular and Molecular Pathologic Mechanisms in Mast Cell Disorders.

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00336076
• Other study ID #: 2004-0246
• Status: Completed
• Phase: N/A
• First received: June 8, 2006
• Last updated: November 3, 2016
• Start date: July 2004
• Est. completion date: July 2009

Study information

• Verified date: November 2016
• Source: University of Michigan
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 136
• Est. completion date: July 2009
• Est. primary completion date: December 2008
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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.

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Mastocytosis

Intervention

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.

Locations

Country	Name	City	State
United States	University of Michigan	Ann Arbor	Michigan

Sponsors (1)

Lead Sponsor	Collaborator
University of Michigan

Country where clinical trial is conducted

United States, 

References & Publications (3)

Akin C, Metcalfe DD. Systemic mastocytosis. Annu Rev Med. 2004;55:419-32. Review. — View Citation

Akin C. Clonality and molecular pathogenesis of mastocytosis. Acta Haematol. 2005;114(1):61-9. Review. — View Citation

Shah NP, Lee FY, Luo R, Jiang Y, Donker M, Akin C. Dasatinib (BMS-354825) inhibits KITD816V, an imatinib-resistant activating mutation that triggers neoplastic growth in most patients with systemic mastocytosis. Blood. 2006 Jul 1;108(1):286-91. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Proportion of the patients with clonal and non-clonal mast cell disorders	Patients were categorized into one of the clonal and non-clonal mast cell disorder categories after availability of diagnostic data	1 week	No
Secondary	Proportion of KIT D816V mutation in blood, bone marrow and sorted mast cells	KIT D816V mutation was assessed in patient samples containing various proportions of neoplastic mast cells.	1 week	No