Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials

Screening Protocol for Genetic Diseases of Mast Cell Homeostasis and Activation

This study is currently recruiting participants. (see Contacts and Locations)
Verified October 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )
ClinicalTrials.gov Identifier:
NCT00852943
First received: February 26, 2009
Last updated: November 11, 2014
Last verified: October 2014
  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 500 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
Official Title: Screening Protocol for Genetic Diseases of Allergic Inflammation and Mast Cell Homeostasis and Activation

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • 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...

Estimated Enrollment: 500
Study Start Date: February 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 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 500 subjects and family members.

  Eligibility

Ages Eligible for Study:   1 Year to 80 Years
Genders Eligible for Study:   Both
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.
  • Subjects with a history of HIV or evidence of chronic Hepatitis B and/or C infection will be excluded.
  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: NCT00852943

Contacts
Contact: Thomas H Dimaggio, R.N. (301) 402-5160 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
Investigators
Principal Investigator: Kelly D Stone, M.D. National Institute of Allergy and Infectious Diseases (NIAID)
  More Information

Additional Information:
Publications:
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Institute of Allergy and Infectious Diseases (NIAID) )
ClinicalTrials.gov Identifier: NCT00852943     History of Changes
Other Study ID Numbers: 090086, 09-I-0086
Study First Received: February 26, 2009
Last Updated: November 11, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Mast Cells
Piebaldism
Anaphylaxis
Allergy
Genetics

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

ClinicalTrials.gov processed this record on November 20, 2014