Protocol Details

Detection and Characterization of Host Defense Defects

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	93-I-0119
Sponsoring Institute	National Institute of Allergy and Infectious Diseases (NIAID)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: N/A Max Age: N/A
Referral Letter Required	Yes
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Immunodeficiency; Infections; Phagocytes; Cytokines; Genetics
Recruitment Keyword(s)	None
Condition(s)	Immunologic Deficiency Syndrome; Infection
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Institute of Allergy and Infectious Diseases

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.

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Eligibility

INCLUSION CRITERIA:

Patients known to have or suspected of having an immune defect significantly or primarily involving the phagocytes will be eligible for enrollment, as well as their blood relatives. Such syndromes include but are not limited to those listed above. There will be no limit as age, sex, race or disability. Normal volunteers will be healthy adults between the age of 18 and 70 years and of either sex.

EXCLUSION CRITERIA:

The presence of an acquired abnormality which leads to immune defects, such as HIV, cytotoxic chemotherapy or malignancy could be grounds for possible exclusion if, in the opinion of the investigator, the presence of such disease process interfered with evaluation.

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Citations:

Not Provided

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Contacts:

Principal Investigator	Referral Contact	For more information http://clinicalstudies.info.nih.gov.
Steven M. Holland, M.D. National Institute of Allergy and Infectious Diseases (NIAID) National Institutes of Health Building 10 Room 12C103B 10 Center Drive Bethesda, Maryland 20892 (301) 402-0198 JBENNETT@niaid.nih.gov	Cathleen Frein, R.N. National Institute of Allergy and Infectious Diseases (NIAID) National Institutes of Health Building 10 Room 12C103B 10 Center Drive Bethesda, Maryland 20892 (301) 402-0198 JBENNETT@niaid.nih.gov	Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00001355

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