Ignite Creation Date:
2024-05-05 @ 11:46 AM
Last Modification Date:
2024-10-26 @ 9:13 AM
Study NCT ID:
NCT00128973
Status:
RECRUITING
Last Update Posted:
2024-07-10
First Post:
2005-08-09
Brief Title:
Evaluation of Patients With Immune Function Abnormalities
Sponsor:
National Institute of Allergy and Infectious Diseases NIAID
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Screening and Baseline Assessment of Patients With Abnormalities of Immune Function
Status:
RECRUITING
Status Verified Date:
2024-10-01
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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 andor 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
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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 05-I-0213 | None | None | None |