Evaluation of Patients With Immune Function Abnormalities
- Conditions
- Leukocyte Adhesion Deficiency 1 (LAD)Chronic Granulomatous Disease (CGD)X-Linked Severe Combined Immune Deficiency (XSCID)Graft Versus Host Disease (cGvHD)
- Registration Number
- NCT00128973
- Brief Summary
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. 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
- Detailed Description
This protocol is designed for the screening and baseline assessment of and collection of research samples from patients with abnormalities of immune function as manifested by recurrent or unusual infections, recurrent or chronic inflammation, or previous laboratory evidence of immune dysfunction. After baseline assessments are complete, participants will remain on study to allow long-term assessments of the natural course of their condition. Abnormalities of immune function may be inherited or may be iatrogenic such as that following hematopoietic stem cell transplantation or other treatments resulting in prolonged immune dysfunction. Blood and/or bone marrow cells may also be used to investigate the utility of induced pluripotent stem cells (iPS) for immune cell derivation and targeted gene correction. This is not a protocol to study or screen for human immunodeficiency virus (HIV) infection, though patients with HIV infection who may have other causes for immune dysfunction are not excluded. First- or second-degree genetically related family members (limited to mother, father, siblings, grandparents, children, aunts, uncles, and first cousins of an affected patient) may also be screened for clinical, in vitro, and genetic correlates of immune abnormalities. Healthy Volunteers will be enrolled as a source of control blood samples for research testing, not to include genetic testing. Patients with documented immune dysfunction may receive limited medically indicated treatment if that medically indicated treatment is related to the abnormality of immune function under study. Results of clinically indicated diagnostic evaluations and treatments performed outside of this protocol may be collected for research use as part of this study. When screening and assessment is complete, patients will be offered an opportunity to participate in another study, or if there are no active studies appropriate for the patient, other options will be suggested to the primary or referring physician. Regardless of whether the patient enrolls on another NIH study, they will remain on this study for long-term follow-up of their condition.
This protocol will allow detailed long-term investigation of patients with abnormalities of immune function with the following goals:
1. To determine the degree, scope, and cause of immune dysfunction;
2. To establish the pace and pattern of change in the disease process;
3. To determine the extent of organ involvement and damage from immune dysfunction.
The assessments performed under this protocol are necessary to discover new causes of immune abnormalities, to delineate epidemiology of immune deficiencies, to develop new diagnostic and therapeutic tools, and to determine a patient s eligibility for other studies.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 3500
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 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)... ongoing throughout study Identification of genetic links and biochemical correlates of PID to clinical manifestations
To characterize the physiologic, biochemical or genetic basis of the abnormality of immunity. 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. 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 to one year baseline assessment. ongoing throughout study Identification pregression and pattern of disease over time
- Secondary Outcome Measures
Name Time Method To establish a baseline assessment of the pace and extent of the disease before entering a therapeutic clinical trial. ongoing throughout study Identification of best time with respect to disease process to place pts on a treatment protocol
To assess the patient s ability to safely tolerate specific aspects of other diagnostic or therapeutic research protocols. ongoing throughout study Patients tolerate treatment for PID disease
To determine a patient s eligibility for other studies. ongoing throughout study Patient recruitment to treatment protocols
Trial Locations
- Locations (1)
National Institutes of Health Clinical Center
🇺🇸Bethesda, Maryland, United States