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


N/A
N/A
N/A
Open (Enrolling)
Both
Piebaldism, Idiopathic Anaphylaxis, Allergy, Chronic Urticara, Angioedema

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Trial Information

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


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, 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 250 subjects and
family members over the next 5 years.

Inclusion 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.

Type of Study:

Observational

Study Design:

N/A

Outcome Measure:

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...

Principal Investigator

Kelly D Stone, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Institute of Allergy and Infectious Diseases (NIAID)

Authority:

United States: Federal Government

Study ID:

090086

NCT ID:

NCT00852943

Start Date:

February 2009

Completion Date:

Related Keywords:

  • Piebaldism
  • Idiopathic Anaphylaxis
  • Allergy
  • Chronic Urticara
  • Angioedema
  • Mast Cells
  • Piebaldism
  • Anaphylaxis
  • Allergy
  • Genetics
  • Cardio-Facio-Cutaneous Syndrome
  • Noonan Syndrome
  • Costello Syndrome
  • Hypersensitivity
  • Anaphylaxis
  • Angioedema
  • Piebaldism

Name

Location

National Institutes of Health Clinical Center, 9000 Rockville PikeBethesda, Maryland  20892