Trial record 12 of 14 for:    Open Studies | "Anaphylaxis"

Molecular Mechanisms and Diagnosis of Mastocytosis

The recruitment status of this study is unknown because the information has not been verified recently.
Verified February 2009 by University of Michigan.
Recruitment status was  Recruiting
Sponsor:
Information provided by:
University of Michigan
ClinicalTrials.gov Identifier:
NCT00336076
First received: June 8, 2006
Last updated: February 12, 2009
Last verified: February 2009
  Purpose

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.


Condition
Mastocytosis

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Investigation of Cellular and Molecular Pathologic Mechanisms in Mast Cell Disorders.

Resource links provided by NLM:


Further study details as provided by University of Michigan:

Biospecimen Retention:   Samples With DNA

Plasma and nucleic acid.


Estimated Enrollment: 200
Study Start Date: July 2004
  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population

Patients with confirmed or suspected mast cell disease

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00336076

Contacts
Contact: Cem Akin, M.D., Ph.D. 734-647-6234 cemakin@umich.edu
Contact: Echo Reed 734-936-5634 echoreed@umich.edu

Locations
United States, Michigan
University of Michigan Recruiting
Ann Arbor, Michigan, United States, 48109
Contact: Cem Akin, M.D., Ph.D.    734-647-6234    cemakin@umich.edu   
Principal Investigator: Cem Akin, M.D., Ph.D.         
Sponsors and Collaborators
University of Michigan
Investigators
Principal Investigator: Cem Akin, M.D., Ph.D. University of Michigan
  More Information

Publications:
Responsible Party: Cem Akin, University of Michigan
ClinicalTrials.gov Identifier: NCT00336076     History of Changes
Other Study ID Numbers: 2004-0246
Study First Received: June 8, 2006
Last Updated: February 12, 2009
Health Authority: United States: Institutional Review Board

Keywords provided by University of Michigan:
Mast cell disease
Anaphylaxis
c-kit
Mutation
Mastocytosis (suspected or proven)

Additional relevant MeSH terms:
Mastocytosis
Urticaria Pigmentosa
Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Neoplasms
Skin Diseases
Mastocytosis, Cutaneous
Pigmentation Disorders

ClinicalTrials.gov processed this record on August 21, 2014