Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States
|ClinicalTrials.gov Identifier: NCT00266513|
Recruitment Status : Terminated
First Posted : December 16, 2005
Last Update Posted : October 6, 2017
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:
- X linked hyper IgM Syndrome which is caused by an abnormality in the CD40L gene.
- NEMO associated immune deficiency which is caused by an abnormality in a gene called NEMO.
- Common variable immunodeficiency (CVID) which has an unknown genetic basis.
- Other disorders of immunoglobulin production.
This study will:
- Better characterize the clinical features of CD40 L deficiency and NEMO associated immune deficiency and other related primary immune deficiency syndromes.
- Determine the frequency of CD40 L and Nemo abnormalities.
- Determine whether particular abnormalities in these genes are associated with more of less severe illness or with specific symptoms.
- Explore the basic mechanism by which these altered genes cause immune dysfunction.
- Identify other genes causing low immune globulin levels and related primary immune deficient states.
|Condition or disease|
|Hyper-IgM Syndrome Ectodermal Dysplasia|
|Study Type :||Observational|
|Actual Enrollment :||119 participants|
|Official Title:||Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States|
|Study Start Date :||December 14, 2005|
|Study Completion Date :||July 11, 2013|
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00266513
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Ashish K Jain, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|