Detection and Characterization of Host Defense Defects
| Status: | Recruiting |
|---|---|
| Conditions: | Infectious Disease, HIV / AIDS |
| Therapuetic Areas: | Immunology / Infectious Diseases |
| Healthy: | No |
| Age Range: | Any - 100 |
| Updated: | 4/6/2019 |
| Start Date: | April 13, 1993 |
| Contact: | Cathleen Frein, R.N. |
| Email: | freinc@mail.nih.gov |
| Phone: | (301) 402-1006 |
This protocol is designed to evaluate selected patients with documented recurrent or unusual
infections and their family members for clinical and laboratory correlates of immune
abnormalities. It allows long term follow up of patients with host defense defects and
permits the periodic study of their 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.
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)
2. Try to develop better ways to diagnose and treat patients with these diseases, and to
prevent, diagnose and treat their infections
Patients and family members may undergo the following procedures:
- 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 may have genetic testing and must be willing to have specimens stored for
future research.
- 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.
- NIH does not cover the cost of the initial screening visit for travel or lodging. 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 will be asked to obtain their medical records, previous test results, or
imaging studies prior to the first visit.
infections and their family members for clinical and laboratory correlates of immune
abnormalities. It allows long term follow up of patients with host defense defects and
permits the periodic study of their 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.
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)
2. Try to develop better ways to diagnose and treat patients with these diseases, and to
prevent, diagnose and treat their infections
Patients and family members may undergo the following procedures:
- 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 may have genetic testing and must be willing to have specimens stored for
future research.
- 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.
- NIH does not cover the cost of the initial screening visit for travel or lodging. 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 will be asked to obtain their medical records, previous test results, or
imaging studies prior to the first visit.
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, breast milk, 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.
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, breast milk, 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.
- 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.
Subjects enrolled will be able to provide informed consent for themselves or if they lack
the capacity to provide informed consent, the study team will comply with MAS 87-4.
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.
Subjects with dementia that impairs obtaining informed consent are excluded unless there is
an appropriate surrogate (legal guardian or durable power of attorney who is willing to
provide consent).
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
Phone: 800-411-1222
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