MedDataX Logo

Molecular Mechanisms and Diagnosis of Mastocytosis

NCT ID: NCT00336076

Last Updated: 2016-11-07

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

136 participants

Study Classification

OBSERVATIONAL

Study Start Date

2004-07-31

Study Completion Date

2009-07-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Mastocytosis

Keywords

Explore important study keywords that can help with search, categorization, and topic discovery.

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

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

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.

Collection of blood and bone marrow

Intervention Type OTHER

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

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Collection of blood and bone marrow

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

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

University of Michigan

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Cem Akin

Assistant Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Cem Akin, M.D., Ph.D.

Role: PRINCIPAL_INVESTIGATOR

University of Michigan

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

University of Michigan

Ann Arbor, Michigan, United States

Site Status

Countries

Review the countries where the study has at least one active or historical site.

United States

References

Explore related publications, articles, or registry entries linked to this study.

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

Reference Type BACKGROUND
PMID: 15995326 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 16434489 (View on PubMed)

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

Reference Type BACKGROUND
PMID: 14746529 (View on PubMed)

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

2004-0246

Identifier Type: -

Identifier Source: org_study_id