Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States
Public ClinicalTrials.gov record NCT00266513. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT00266513
- Recruitment status
- Terminated
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 119 participants
Conditions and interventions
Conditions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- Not listed
- Sex
- All
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Dec 13, 2005
- Primary completion
- Not listed
- Completion
- Jul 10, 2013
- Last update posted
- Oct 5, 2017
2005 – 2013
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland | 20892 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT00266513, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Oct 5, 2017 · Synced Sep 5, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT00266513 live on ClinicalTrials.gov.