NCT00128973 · National Institute of Allergy and Infectious Diseases (NIAID)
Evaluation of Patients With Immune Function Abnormalities
What this study is about
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).
View original scientific description
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: 1. Medical history and physical examination. 2. Blood and urine tests, including analysis for genes involved in immune disorders. 3. Buccal smear (in some patients) for genetic studies. This involves scraping the lining of the mouth near the cheek. 4. 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. 5.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- Patients: To be eligible to participate in this study as a patient, an individual must meet the following criteria:
- Must be 2 years of age to be seen at the Clinical Center as an outpatient and they must not have any active infections. Send-in samples for clinical diagnosis at any age.
- Have an abnormality of immune function as manifested by:
- recurrent or unusual infections,
- recurrent or chronic inflammation, or
- previous laboratory evidence of immune dysfunction.
- Have a primary physician outside of the NIH. Relatives of Patient: To be eligible to participate in this study as a patient relative, an individual must meet the following criteria:
- Be a biological mother, father, sibling, child, grandparent, aunt, uncle, or first cousin to a patient. --Sibling, child, first cousin, aunt, and uncle must be 2 years of age to be seen at the Clinical Center as an outpatient with no active infections, Send-in samples for clinical diagnosis at any age.
- Be willing to have blood stored for future studies and/or other research purposes. Healthy Volunteers: To be eligible to participate in this study as a healthy volunteer, an individual must meet the following criteria:
- Be a healthy adult of either sex and between age of 18 and 85 years old.
- Have a hemoglobin count of \>=11.
- Weight greater than 110 pounds.
- Not have a history of intravenous injection drug use.
- Not have a history of engaging in high-risk activities for exposure to HIV.
- Be willing to have their blood samples stored for future research and modified to iPS cells.
Exclusion criteria
- Patients and Relatives of Patient: In general, there are no strict exclusion criteria for these cohorts. However, the presence of certain types of acquired abnormalities of immunity solely due to HIV, chemotherapeutic agent(s), or an underlying malignancy could be grounds for possible exclusion for a patient or relative of a patient. In the opinion of the investigator, the presence of such disease processes may interfere with evaluation of a co-existing abnormality of immunity that is the subject of study under this protocol. Pregnant females will not be allowed to participate in any procedure that may be dangerous to the pregnancy or the fetus. Healthy Volunteers: An individual who meets any of the following criteria will be excluded from participation as a healthy volunteer in this study:
- Have HIV or viral hepatitis (B or C), or history of viral hepatitis B or C since age 11.
- Receiving chemotherapeutic agent(s) or have underlying malignancy.
- Have history of heart, lung, kidney disease, or bleeding disorders.
Where
- Bethesda, Maryland
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jul 10, 2026 · Source of record for eligibility and locations