Evaluation of Patients With Immune Function Abnormalities
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00128973|
Recruitment Status : Recruiting
First Posted : August 10, 2005
Last Update Posted : October 19, 2017
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation. This may include inherited conditions, such as X-linked severe combined immunodeficiency (XSCID), chronic granulomatous disease (CGD), and leukocyte adhesion deficiency (LAD), or conditions resulting from outside factors, such as graft-versus-host disease (GVHD). The information from this study will be used to establish the pattern and pace of change of the disease and to help develop new treatments. The period of observation and study following enrollment in this study may be for up to one year. In addition these studies may provide the medical information needed to determine eligibility for enrollment in other clinical study protocols and more prolonged follow up.
Patients of any age with abnormal immune function who have recurrent or unusual infections, whose blood tests show evidence of immune dysfunction, or who have GVHD, XSCID, CGD or LAD may be eligible for this study. Patients' parents, siblings, grandparents, children, aunts, uncles and first cousins of any age also may be included. Healthy normal volunteers between 18 and 85 years of age are recruited as controls.
Normal volunteers undergo a physical examination and provide blood, saliva, and urine samples for immune function studies. Patients' family members provide a medical history, have a physical examination, and give blood and urine samples, and possibly a saliva sample. The samples are used for genetic and routine laboratory studies. Investigators may request tissue samples, such as biopsy specimens, previously removed for medical reasons to be sent to NIH for study. Patients undergo the following tests and procedures:
- Medical history and physical examination.
- Blood and urine tests, including analysis for genes involved in immune disorders.
- Buccal smear (in some patients) for genetic studies. This involves scraping the lining of the mouth near the cheek.
- Specialized tests to evaluate specific conditions in patients who have an immune disorder that might affect lung function, gum infections or eye problems. These may include chest x-ray, CT scan, breathing function test, dental, eye, and hearing examinations.
Follow-up visits of patients with immune problems may occur at 6 months and at one year after the first visit (or more frequently if medically required) to include:
- Medical history update
- Physical examination
- Follow-up on abnormal test results and medical treatments initiated at NIH
- Collection of blood, saliva, urine, or wound drainage samples for repeat immune function studies
- Tissue study of specimens removed for medical reasons at other institutions besides NIH
|Condition or disease|
|Immune System Diseases|
Show Detailed Description
|Study Type :||Observational|
|Estimated Enrollment :||2400 participants|
|Official Title:||Screening and Baseline Assessment of Patients With Abnormalities of Immune Function|
|Study Start Date :||August 8, 2005|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00128973
|Contact: Patricia L Littel, R.N.||(301) firstname.lastname@example.org|
|Contact: Harry L Malech, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||Harry L Malech, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|