Ignite Creation Date:
2024-05-05 @ 4:56 PM
Last Modification Date:
2024-10-26 @ 9:26 AM
Study NCT ID:
NCT00359411
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2006-08-01
Brief Title:
Genetic Studies of X-linked Lymphoproliferative Disease
Sponsor:
National Institute of Allergy and Infectious Diseases NIAID
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Genetic Studies of the X-Linked Lymphoproliferative Disease
Status:
COMPLETED
Status Verified Date:
2010-02-01
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 study the effects of the gene on the X chromosome that is associated with X-linked lymphoproliferative disease XLPD-an inherited disease affecting the immune system-on the function of the immune system XLPD has been linked to an abnormality in a specific region of the X chromosome one of 23 chromosome pairs that contain the genes that determine a persons hereditary makeup The disease may develop after infection with the Epstein-Barr virus EBV EBV affects more than 95 percent of people in the United States It usually does not cause any symptoms in children In adolescents and adults however EBV can cause infectious mononucleosis and sometimes lymphoproliferative disease such as XLPD In these diseases lymph tissues such as lymph nodes may become enlarged and immune function infection-fighting ability impaired This study will compare DNA from patients with XLPD with that of their unaffected relatives of patients with other lymphoproliferative diseases and of normal controls
Patients of any age with XLPD their unaffected relatives 18 years of age and older and patients with other lymphoproliferative diseases may participate in this study
Blood samples will be collected from all participants to study the effects of the gene on the X chromosome that appears to be abnormal in XLPD on the function of the immune system In a 6-week period no more than 100 milliliters about 7 tablespoons of blood will be drawn from adults and no more than 1 ml 16 teaspoon of blood per pound of body weight from children Blood from patients with XLPD and their relatives will also be tested for HLA type similar to blood type testing and the ability of HLA-matched cells from patients and relatives to interact will be examined
Patients of any age with XLPD their unaffected relatives 18 years of age and older and patients with other lymphoproliferative diseases may participate in this study
Blood samples will be collected from all participants to study the effects of the gene on the X chromosome that appears to be abnormal in XLPD on the function of the immune system In a 6-week period no more than 100 milliliters about 7 tablespoons of blood will be drawn from adults and no more than 1 ml 16 teaspoon of blood per pound of body weight from children Blood from patients with XLPD and their relatives will also be tested for HLA type similar to blood type testing and the ability of HLA-matched cells from patients and relatives to interact will be examined
Detailed Description:
Males with the X-linked ymphoproliferative disease XLPD have a marked susceptibility to Epstein-Barr virus EBV disease These boys develop very severe disease associated with infectious mononucleosis others develop hypogammaglobulinemia or B cell lymphomas Recent studies have linked the disease to a region of the X-chromosome The purpose of this study is to determine the function of the gene responsible for XLPD Blood samples or discarded tissues eg previous biopsy or autopsy material from patients with XLPD and their relatives will be analyzed to determine the precise genetic defect associated with the disease Blood samples or discarded tissues from other patients with EBV-associated lymphoproliferative diseases and blood samples from normal individuals will be obtained to serve as controls Knowledge gained from this study should provide important insights into the immunologic control of EBV lymphoproliferative disease associated with congenital or acquired immunodeficiency In addition identification of the molecular mechanisms for these diseases may provide clues to other EBV-associated diseases including nasopharyngeal carcinoma Burkitt lymphoma and Hodgkins disease
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
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 |
|---|---|---|---|
| 96-I-0085 | None | None | None |