Clinical Trial: Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and Activation

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Screening Protocol for Genetic Diseases of Allergic Inflammation and Mast Cell Homeostasis and Activation

Brief Summary:

Background:

  • Mast cells are responsible for most symptoms of allergic reactions. In some allergic diseases, it is unusually easy to cause mast cells to release their contents and cause allergic reactions. In other cases, mast cells grow abnormally and, in rare cases, can result in tumors. Mast cells also control other parts of the immune system.
  • Understanding why mast cells behave abnormally in allergic diseases is important to finding better ways for diagnosing and treating these potentially life-threatening disorders.

Objectives:

  • To screen mast cells at the genetic and functional levels to characterize abnormalities, identify mutations, detect carrier states, and/or develop therapies for such disorders.
  • To create a library of information about inherited diseases of mast cell homeostasis and activation, including piebaldism (problems with skin and hair pigmentation), anaphylaxis (severe allergic reaction), allergies, asthma, atopic dermatitis (eczema), allergic rhinitis ( hay fever ), food allergies, urticaria/angioedema (hives/swelling), immunodeficiency diseases, and autoimmune diseases.

Eligibility:

  • Patients between the ages of 1 and 80 years who have been referred by a physician and are known to have or be suspected of having an inherited disorder of mast cells, in particular patients (and their relatives) with piebaldism, allergies, or anaphylaxis that is not caused by allergies.

Design:


    Detailed Summary: This protocol is designed to screen subjects (and some family members) with suspected or identified genetic diseases of allergic inflammation or mast cell homeostasis and activation. Patients determined by clinical history and initial outside evaluation by their referring physician to be of interest will be consented and enrolled into this study. Blood specimens stored blood products and derivatives, saliva, hair, finger nail clippings, cord blood, umbilical cord, and/or buccal swabs from such patients and/or their family members will be obtained for research studies related to understanding the genetic and biochemical bases of these diseases. Outside medical records may be obtained for chart review to correlate clinical history to research laboratory testing results. Results will be relayed to the referring physicians and, where applicable, patients will be referred to other appropriate National Institutes of Health protocols for additional clinical evaluation and treatment. The study will enroll up to 1000 subjects and family members.
    Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)

    Current Primary Outcome: Designed to screen subjects with suspected or identified genetic diseases of mast cell homeostasis and activation. Blood specimens will be obtained for research studies related to understanding the genetic and biochemical bases of these diseases...

    Original Primary Outcome:

    Current Secondary Outcome:

    Original Secondary Outcome:

    Information By: National Institutes of Health Clinical Center (CC)

    Dates:
    Date Received: February 26, 2009
    Date Started: February 24, 2009
    Date Completion:
    Last Updated: April 20, 2017
    Last Verified: January 10, 2017