Detection and Characterization of Infections and Infection Susceptibility
- Conditions
- Immune Deficiencies
- Registration Number
- NCT00404560
- Brief Summary
This screening study will examine the causes of immune disorders affecting white blood cells, which defend against infections and will try to develop better means of diagnosis and treatment of these immune disorders. This is a 2 visit screening study and patients determined to be of interest for additional study or treatment will be asked to provide consent for enrollment into an appropriate NIH follow up study. This study does not cover the cost of the first visit to NIH for travel or lodgings but does cover the subsequent visit if there is one. A financial assessment may determine if the patient is eligible for financial assistance. This study does not enroll children under the age of 2.
Patients known to have or suspected of having increased susceptibility to infections and their blood relatives may be eligible for this study, at the discretion of the principal investigator. Patients and family members may undergo the following procedures:
* Personal and family medical history.
* Physical examination and blood and urine tests.
* Studies of breathing function (pulmonary function testing)
* Dental examination.
* Eye examination.
* Genetic Testing
* Stored specimens for future analysis
* Microscopic examination of saliva, wound drainage or tissues removed for medical reasons for cell, hormone or DNA studies.
In addition, patients will be asked to obtain permission for investigators to obtain their medical records, previous test results, or radiographic studies prior to the first visit. Patients will be asked to undergo imaging studies, such as a chest X-ray, CT scan or MRI scan.
- Detailed Description
This screening study is designed to evaluate patients with suspected or identified recurrent or unusual infections and their family members for clinical and in vitro correlates of exposure and susceptibility. It will allow for up to 2 visits to obtain blood, urine, saliva, stool, skin biopsy, or wound drainage from such patients or their family members for research studies related to understanding the nature of the infection as well as the genetic and biochemical bases of these diseases. Patients determined by initial evaluation to be of interest for additional study or treatment will be asked to provide consent for enrollment into an appropriate NIH follow-up study. The present study will enroll up to 2000 patients and family members over the next 25 years.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 2000
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method determination of a discrete diagnosis of an infecting agent, an underlying susceptibility trait, or both. upon diagnosis or after the second visit patients determined to have a diagnosis or syndrome that requires further study at the NIH will be asked to provide consent for enrollment into an appropriate study for further diagnosis and/or treatment
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
National Institutes of Health Clinical Center
🇺🇸Bethesda, Maryland, United States