Molecular Mechanisms and Diagnosis of Mastocytosis

NCT00336076 | Completed

• 1 other identifier: 2004-0246
• Study Type: observational
• Target: 136
• Locations: 1 country
• Sites: 1

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.

Conditions

Mastocytosis

Keywords

Mast cell disease; Anaphylaxis; c-kit; Mutation; Mastocytosis (suspected or proven)

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (1)

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

  1 week

Study Arms (1)

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

Interventions

Collection of blood and bone marrow OTHER

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

Participants evaluated for mastocytosis

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with confirmed or suspected mast cell disease

You may qualify if:

• Confirmed or suspected diagnosis of mastocytosis.
• Ability to give informed consent (by the patient or legal guardian if minor)

You may not qualify if:

• Inability or not willing to provide informed consent.

Sponsors & Collaborators

• University of Michigan: lead

Study Sites (1)

University of Michigan

Ann Arbor, Michigan, 48109, United States

Location

Related Publications (3)

• Akin C. Clonality and molecular pathogenesis of mastocytosis. Acta Haematol. 2005;114(1):61-9. doi: 10.1159/000085563.

  PMID: 15995326 BACKGROUND

• 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.

  PMID: 16434489 BACKGROUND

• Akin C, Metcalfe DD. Systemic mastocytosis. Annu Rev Med. 2004;55:419-32. doi: 10.1146/annurev.med.55.091902.103822.

  PMID: 14746529 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Plasma and nucleic acid.

MeSH Terms

Conditions

Mastocytosis; Mast Cell Activation Disorders; Anaphylaxis; Piebaldism

Condition Hierarchy (Ancestors)

Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Immune System Diseases; Hypersensitivity, Immediate; Hypersensitivity; Albinism; Eye Diseases, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Skin Diseases, Genetic; Hypopigmentation; Pigmentation Disorders; Skin Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Cem Akin, M.D., Ph.D.

  University of Michigan

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: June 8, 2006
• First Posted: June 12, 2006
• Study Start: July 1, 2004
• Primary Completion: December 1, 2008
• Study Completion: July 1, 2009
• Last Updated: November 7, 2016

Record last verified: 2016-11

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)