Clinical trial NCT00336076: Molecular Mechanisms and Diagnosis of Mastocytosis
Official title: Investigation of Cellular and Molecular Pathologic Mechanisms in Mast Cell Disorders.
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Mastocytosis
Keywords: Mast cell disease
Anaphylaxis
c-kit
Mutation
Mastocytosis (suspected or proven)
Lead sponsor: University of Michigan
Sponsor class: OTHER
First posted: 2006-06-12
Enrollment: 136
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with confirmed or suspected mast cell disease

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.


Eligibility criteria: 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.

Primary outcomes:
measure: Proportion of the patients with clonal and non-clonal mast cell disorders
timeFrame: 1 week
Secondary outcomes:
measure: Proportion of KIT D816V mutation in blood, bone marrow and sorted mast cells
timeFrame: 1 week
Other outcomes:
Locations:
city: Ann Arbor
country: United States
facility: University of Michigan
state: Michigan
Study officials:
affiliation: University of Michigan
name: Cem Akin, M.D., Ph.D.
role: PRINCIPAL_INVESTIGATOR
References:
citation: Akin C. Clonality and molecular pathogenesis of mastocytosis. Acta Haematol. 2005;114(1):61-9. doi: 10.1159/000085563.
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. doi: 10.1182/blood-2005-10-3969. Epub 2006 Jan 24.
citation: Akin C, Metcalfe DD. Systemic mastocytosis. Annu Rev Med. 2004;55:419-32. doi: 10.1146/annurev.med.55.091902.103822.