Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States
| Status: | Terminated |
|---|---|
| Conditions: | HIV / AIDS |
| Therapuetic Areas: | Immunology / Infectious Diseases |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 10/8/2017 |
| Start Date: | December 14, 2005 |
| End Date: | July 11, 2013 |
This study investigates gene abnormalities in Primary Immune Deficiency(PID) with a goal of
improving the diagnosis and treatment of patients.
The specific disorders include:
1. X linked hyper IgM Syndrome which is caused by an abnormality in the CD40L gene.
2. NEMO associated immune deficiency which is caused by an abnormality in a gene called
NEMO.
3. Common variable immunodeficiency (CVID) which has an unknown genetic basis.
4. Other disorders of immunoglobulin production.
This study will:
1. Better characterize the clinical features of CD40 L deficiency and NEMO associated
immune deficiency and other related primary immune deficiency syndromes.
2. Determine the frequency of CD40 L and Nemo abnormalities.
3. Determine whether particular abnormalities in these genes are associated with more of
less severe illness or with specific symptoms.
4. Explore the basic mechanism by which these altered genes cause immune dysfunction.
5. Identify other genes causing low immune globulin levels and related primary immune
deficient states.
improving the diagnosis and treatment of patients.
The specific disorders include:
1. X linked hyper IgM Syndrome which is caused by an abnormality in the CD40L gene.
2. NEMO associated immune deficiency which is caused by an abnormality in a gene called
NEMO.
3. Common variable immunodeficiency (CVID) which has an unknown genetic basis.
4. Other disorders of immunoglobulin production.
This study will:
1. Better characterize the clinical features of CD40 L deficiency and NEMO associated
immune deficiency and other related primary immune deficiency syndromes.
2. Determine the frequency of CD40 L and Nemo abnormalities.
3. Determine whether particular abnormalities in these genes are associated with more of
less severe illness or with specific symptoms.
4. Explore the basic mechanism by which these altered genes cause immune dysfunction.
5. Identify other genes causing low immune globulin levels and related primary immune
deficient states.
This protocol is designed to study the genetics and pathophysiology of Hyper-IgM syndrome,
NEMO associated immune deficiency, patients with related primary immune deficiency disorders,
and the blood relatives of immunodeficient patients. Patients will undergo evaluations that
include history/physical, blood sampling, genetic testing, and possible tissue sampling.
Among the aims of this protocol are to better understand genetic factors that lead to defects
in host defense, and to use modern and evolving methods in molecular and cellular biology to
elucidate the pathogenesis of these diseases. A better understanding of primary
immunodeficiency could allow for the rational development of novel therapies for such
diseases and to benefit future patients, but it might not benefit current patients directly.
Routine follow-up may occur every six months - with evaluation and blood sampling. Under some
circumstances, we may provide treatment that relates to the immune deficiency. These
treatments will follow standard medical practice.
NEMO associated immune deficiency, patients with related primary immune deficiency disorders,
and the blood relatives of immunodeficient patients. Patients will undergo evaluations that
include history/physical, blood sampling, genetic testing, and possible tissue sampling.
Among the aims of this protocol are to better understand genetic factors that lead to defects
in host defense, and to use modern and evolving methods in molecular and cellular biology to
elucidate the pathogenesis of these diseases. A better understanding of primary
immunodeficiency could allow for the rational development of novel therapies for such
diseases and to benefit future patients, but it might not benefit current patients directly.
Routine follow-up may occur every six months - with evaluation and blood sampling. Under some
circumstances, we may provide treatment that relates to the immune deficiency. These
treatments will follow standard medical practice.
- INCLUSION CRITERIA:
All patients must have a known or suspected immune defect with hyper-IgM syndrome and/or
disorders of immunoglobulin production. There will be no limit on age, sex, race, or
disability. Normal volunteers must be healthy adults between the age of 18 and 70 years.
All study participants enrolled on to this study must agree to allow PI to store research
samples. Refusal to let PI store samples may lead to withdrawal fro this specific study.
EXCLUSION CRITERIA:
The presence of an acquired abnormality, which leads to immune defects, such as HIV,
chemotherapy, and malignancy are general exclusion criteria. Refusal to let us store
samples may lead to withdrawal from this specific study. Other factors, which are in the
judgment of the Principal Investigator PI that may interfere with patient evaluation or
determine to pose an added risk for study participants are also criteria for exclusion.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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