Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States
Stopped early
Conditions studied: Hyper-IgM Syndrome, Ectodermal Dysplasia
In brief
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.
Key facts
- Study ID
- NCT00266513
- Run by
- National Institute of Allergy and Infectious Diseases (NIAID)
- People needed
- 119
- Starts
- 2005-12-14
- Expected to finish
- 2013-07-11
- Last updated by the study team
- 2017-10-06
Who can join
Age: any. Sex: any. Healthy volunteers: accepted.
You may not qualify if…
- 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.
Where it is running
- National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States
Full record on ClinicalTrials.gov
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