Detection and Characterization of Host Defense Defects
This study will: 1) determine the biochemical and genetic causes of inherited immune diseases affecting phagocytes (white blood cells that defend against bacterial and fungal infections); and 2) try to develop better ways to diagnose and treat patients with these diseases, and to prevent, diagnose and treat their infections.
Patients with chronic granulomatous disease (CGD), hyper immunoglobulin-E recurrent infection syndrome (HIE or Job s syndrome), chronic and cyclic neutropenia, Chediak-Higashi syndrome (CHS), leukocyte adhesion deficiency (LAD), and disseminated mycobacterial infections, and their family members, may be eligible for this study. Normal volunteers between the 18 and 70 years of age will also be enrolled.
All participants will donate 1 to 3 ounces (2 to 6 tablespoons) of blood at a time, but no more than 1 pint (32 tablespoons) for adults and one-half teaspoon per pound of body weight for children over a 6-week period. They will also have DNA studies to try to identify genetic factors related to inherited immune disorders. In addition,
- Patients will have a personal and family medical history, physical examination and other procedures, which may include various blood tests; urinalysis; saliva collection; imaging studies such as chest X-ray, computed tomography (CT) or magnetic resonance imaging (MRI); and lung function studies, dental examination or eye examinations, if medically indicated. Patients who have draining wounds will have fluid collected from these wounds for biochemical study. Tissues removed as part of medical care, such as pieces of lung, liver, or teeth, or biopsies of these tissues will be studied. Patients who have an immune problem that investigators wish to study further will be asked to return to NIH for follow-up visits at irregular intervals, but at least every 6 months. The visits will include an updated medical history, examination directed at the particular medical problem related to the immune disorder, follow-up of abnormal tests or treatment, and collection of blood, saliva, urine, or wound fluid for study. Patients with a severe bacterial infection may receive treatment with a drug called meropenem, given at a maximum dose of up to 2 grams every 8 hours.
- Family members will have a medical history, saliva or urine collection, and chest X-ray or other imaging study, if medically indicated.
- Normal volunteers who have had tissue biopsies or pieces of tissue removed as part of medical care, such as pieces of lung, liver, or teeth, will have these tissues studied.
Immunologic Deficiency Syndrome
|Official Title:||Detection and Characterization of Host Defense Defects|
|Study Start Date:||April 1993|
This protocol is designed to evaluate selected patients with documented recurrent or unusual infections and their family members for clinical and in vitro correlates of immune abnormalities. It will also allow long term follow up of patients with host defense defects and permit us to periodically obtain blood, urine, saliva, skin, stool and vaginal specimens or wound drainage from such patients or their family members for medically indicated purposes and research studies related to understanding the genetic and biochemical bases of these diseases. This protocol may help provide patients and materials for the development of therapies for these diseases.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00001355
|Contact: Cathleen Frein, R.N.||(301) email@example.com|
|Contact: Steven M Holland, M.D.||(301) firstname.lastname@example.org|
|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 email@example.com|
|Principal Investigator:||Steven M Holland, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|