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Screening Protocol for Genetic Diseases of Allergic Inflammation

This study is currently recruiting participants.
Verified October 12, 2017 by National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )
Sponsor:
ClinicalTrials.gov Identifier:
NCT00852943
First Posted: February 27, 2009
Last Update Posted: October 19, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )
  Purpose

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:

  • Study population will consist of up to 1000 participants in a 5-year period. One third of the study population will consist of patients; the other two thirds will consist of biological relatives.
  • Evaluation is limited to testing on blood specimens; no treatment will be provided.
  • Clinical and research laboratory evaluations of patients will include the following:
  • Clinical evaluation and previous laboratory tests as documented in outside medical records by health care providers. A standard questionnaire will also be administered at the time of subject enrollment.
  • Blood collection for clinical laboratory testing, tailored to each subject s clinical evaluation where appropriate (5 ml).
  • Blood collection for research laboratory testing, tailored to each subject s clinical evaluation including genetic screening and assessment of mast cell growth and functioning and storage of additional frozen blood specimens for future studies (up to an additional 30 ml).
  • Evaluations of blood relatives will include the following:
  • Clinical evaluation as documented from outside medical records by health care providers and administration of a standard questionnaire.
  • Blood collection where indicated for diagnostic or research purposes.
  • After 12 consecutive months on the study, results from initial evaluation will be reviewed. Subjects with findings deemed to be of continued interest will be contacted and invited to remain as active participants to this protocol for another year, provided that they renew their consent to participate.

Condition
Piebaldism Idiopathic Anaphylaxis Allergy Chronic Urticara Angioedema

Study Type: Observational
Study Design: Time Perspective: Other
Official Title: Screening Protocol for Genetic Diseases of Allergic Inflammation

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ):

Primary Outcome Measures:
  • Designed to screen subjects with suspected or identified genetic diseases of allergic inflammation or of mast cell homeostasis and activation. Blood specimens will be obtained for research studies related to understanding the genetic and biochem...

Estimated Enrollment: 1000
Study Start Date: February 25, 2009
Detailed Description:
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.
  Eligibility

Information from the National Library of Medicine

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, Learn About Clinical Studies.


Ages Eligible for Study:   1 Year to 80 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:
  • Subjects, ages birth to 999 years old, known to have or suspected of having an inherited disorder of allergic inflammation or mast cell homeostasis or activation, will be eligible for enrollment. Because of the intensive time and labor required for research laboratory testing, subjects will be enrolled only if in the opinion of the investigator (based on discussions with the patient s private physician) there is a high index of suspicion of a genetic disease of allergic inflammation. Blood relatives of enrolled subjects will be eligible for enrollment. There will be no discrimination as to age, gender, race, or disability.
  • Subjects must have a health care provider outside of the NIH.
  • Subjects/guardians must be willing and able to give informed consent.
  • Subjects must agree to have their blood stored for future studies of the immune system and/or other medical conditions.
  • Women will be included in the study, including those who are lactating or may be pregnant.
  • Children will be included in the study.

EXCLUSION CRITERIA:

- The presence of an acquired abnormality of the immune system, such as cytotoxic chemotherapy or malignancy, may be grounds for possible exclusion if, in the opinion of the investigator, the presence of such a disease process would interfere with evaluation.

  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00852943


Contacts
Contact: Thomas H Dimaggio, R.N. (301) 443-8341 dimaggiot@mail.nih.gov
Contact: Kelly D Stone, M.D. (301) 435-0993 stonek@niaid.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
National Institute of Allergy and Infectious Diseases (NIAID)
Investigators
Principal Investigator: Kelly D Stone, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
  More Information

Additional Information:
Publications:
Responsible Party: National Institute of Allergy and Infectious Diseases (NIAID)
ClinicalTrials.gov Identifier: NCT00852943     History of Changes
Other Study ID Numbers: 090086
09-I-0086
First Submitted: February 26, 2009
First Posted: February 27, 2009
Last Update Posted: October 19, 2017
Last Verified: October 12, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) ):
Mast Cells
Piebaldism
Anaphylaxis
Allergy
Genetics

Additional relevant MeSH terms:
Pigmentation Disorders
Inflammation
Angioedema
Genetic Diseases, Inborn
Anaphylaxis
Piebaldism
Pathologic Processes
Vascular Diseases
Cardiovascular Diseases
Urticaria
Skin Diseases, Vascular
Skin Diseases
Hypersensitivity, Immediate
Hypersensitivity
Immune System Diseases
Albinism
Eye Diseases, Hereditary
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Skin Diseases, Genetic
Hypopigmentation
Metabolic Diseases