Evaluation of Patients With Immune Function Abnormalities
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|ClinicalTrials.gov Identifier: NCT00128973|
Recruitment Status : Recruiting
First Posted : August 10, 2005
Last Update Posted : March 26, 2020
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|
|Chronic Granulomatous Disease (CGD) X-Linked Severe Combined Immune Deficiency (XSCID) Leukocyte Adhesion Deficiency 1 (LAD) Graft Versus Host Disease (cGvHD)|
|Study Type :||Observational|
|Estimated Enrollment :||2400 participants|
|Official Title:||Screening and Baseline Assessment of Patients With Abnormalities of Immune Function|
|Actual Study Start Date :||October 19, 2005|
Healthy adult M/F 18-85 y/o.Hgb greater than or equal to 11. Wt>110 bs. No heart, lung, kidney, bleeding disorders. No hep BorC since age ll. No IV drug use. No exposure to the AIDS virus. Not pregnant.
Patients with abnormalities of immune function
Relatives of Patients
Relatives may be mother, father, siblings, children, grandparents, aunts, uncles, and first cousins to a patient.
- To characterize the physiologic, biochemical or genetic basis of the abnormality of immunity. [ Time Frame: ongoing throughout study ]Identification of the pathophysiology and genetic basis of abnormalities of immune function under study
- To establish the extent of organ involvement (infection and/or inflammation) and organ damage or dysfunction resulting from the abnormality of immune function. [ Time Frame: ongoing throughout study ]Identification of severity of disease as it relates to immune function in PID
- To establish the pattern and pace of change of disease (frequency, distribution, type and extent of infections, inflammatory lesions and abnormalities of immune function) during a period of up [ Time Frame: ongoing throughout study ]Identification pregression and pattern of disease over time
- To determine genetic linkage and biochemical correlates of the patient's abnormality of immunity by study of first and second-degree related family members' blood cells (buccal smears instead of blood for genetic studies in some individuals), se... [ Time Frame: ongoing throughout study ]Identification of genetic links and biochemical correlates of PID to clinical manifestations
- To assess feasibility of a novel lung MRI technique in patients with primary immunodeficiency by comparing with medically indicated CT exams. This will help determine whether a lung MRI can supplement CT, or eventually replace CT, in certain lun... [ Time Frame: ongoing throughout study ]Identification of MRI reliability in diagnosing lung abnormalities in PID patients vs tradition CT scan
- To determine a patient's eligibility for other studies. [ Time Frame: ongoing throughout study ]Patient recruitment to treatment protocols
- To assess the patient's ability to safely tolerate specific aspects of other diagnostic or therapeutic research protocols. [ Time Frame: ongoing throughout study ]Patients tolerate treatment for PID disease
- To establish a baseline assessment of the pace and extent of the disease before entering a therapeutic clinical trial. [ Time Frame: ongoing throughout study ]Identification of best time with respect to disease process to place pts on a treatment protocol
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) email@example.com|
|Contact: Harry L Malech, 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 Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Harry L Malech, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|