SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00336076

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

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

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.

NCT00336076 Mastocytosis
MeSH: Mastocytosis
HPO: Mastocytosis

1 Interventions

Name: Collection of blood and bone marrow

Description: 5-8 cc blood or bone marrow was additionally collected for analysis during diagnostic procedures. No assigned interventions.

Type: Other

Participants evaluated for mastocytosis


Primary Outcomes

Description: Patients were categorized into one of the clonal and non-clonal mast cell disorder categories after availability of diagnostic data

Measure: Proportion of the patients with clonal and non-clonal mast cell disorders

Time: 1 week

Secondary Outcomes

Description: KIT D816V mutation was assessed in patient samples containing various proportions of neoplastic mast cells.

Measure: Proportion of KIT D816V mutation in blood, bone marrow and sorted mast cells

Time: 1 week

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 D816V

Proportion of KIT D816V mutation in blood, bone marrow and sorted mast cells. --- D816V ---

KIT D816V mutation was assessed in patient samples containing various proportions of neoplastic mast cells.. Inclusion Criteria: - Confirmed or suspected diagnosis of mastocytosis. --- D816V ---



HPO Nodes


HPO:
Mastocytosis
Genes 1
KIT