X-Linked Lymphoproliferative DiseaseNCT00359411
Genetic Studies of X-linked Lymphoproliferative Disease
An observational study of X-Linked Lymphoproliferative Disease and Lymphoproliferative Disease, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- X-Linked Lymphoproliferative Disease, Lymphoproliferative Disease, Genetic Diseases, X-Linked
- How many people
- 12 participants
- Where
- 1 siteUnited States
- Study dates
- 22 May 1996to 1 Feb 2010
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patients known to have XLPD and their relatives will be recruited from families who have enrolled in a national XLPD registry.
- All racial and ethnic groups will be considered.
- To be considered having XLPD, a patient must be a male who has had:
- severe infectious mononucleosis, or
- acquired hypogammaglobulinemia following infectious mononucleosis, or
- nonHodgkin's lymphoma, or
Show all 9Show fewer
- hyper-IgM or an IgG subclass deficiency with evidence of linkage to the DXS42 locus
- and
- have no other known immunocompromising condition and belong to a family in which another related male has had one or more of the above listed phenotypes.
Who cannot join
- Known HIV infection in any patient with XLPD or their relative (blood will not be tested for HIV), complicating medical or psychiatric conditions in unrelated controls.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Genetic Studies of the X-Linked Lymphoproliferative Disease
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 person's 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.
Read more
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 (1/6 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.
...
Read the 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 (e.g. 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 Hodgkin's disease.
- Conditions
- X-Linked Lymphoproliferative Disease, Lymphoproliferative Disease, Genetic Diseases, X-Linked
- Keywords
- Epstein-Barr Virus, B-Cell Lymphoma, Herpes Virus, Infectious Mononucleosis
- Medical subject headings
- Lymphoproliferative Disorders, Genetic Diseases, X-Linked, Epstein-Barr Virus Infections, Lymphoma, B-Cell, Infectious Mononucleosis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Aug 2006 (estimated)
- Study start22 May 1996
- Study completion1 Feb 2010
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for X-Linked Lymphoproliferative DiseaseStudies of the same condition, open and under way.
- More trials run by National Institute of Allergy and Infectious Diseases (NIAID)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 12 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00359411
- Sponsor's protocol ID
- 960085
- Other IDs
- 96-I-0085
- Status last verified
- 1 Feb 2010
- First submitted
- 1 Aug 2006
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
Purtilo DT, Cassel CK, Yang JP, Harper R. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet. 1975 Apr 26;1(7913):935-40. doi: 10.1016/s0140-6736(75)92004-8.
PubMed 48119Skare JC, Milunsky A, Byron KS, Sullivan JL. Mapping the X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A. 1987 Apr;84(7):2015-8. doi: 10.1073/pnas.84.7.2015.
PubMed 2882515Cohen JI. Epstein-Barr virus lymphoproliferative disease associated with acquired immunodeficiency. Medicine (Baltimore). 1991 Mar;70(2):137-60. doi: 10.1097/00005792-199103000-00005.
PubMed 1848644
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Studies of the X-Linked Lymphoproliferative Disease
- ClinicalTrials.gov ID
- NCT00359411
- Acronym / sponsor ID
- 960085
- Conditions
- X-Linked Lymphoproliferative Disease, Lymphoproliferative Disease, Genetic Diseases, X-Linked
- Keywords
- Epstein-Barr Virus, B-Cell Lymphoma, Herpes Virus, Infectious Mononucleosis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 12 participants (actual)
- Lead sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)US National Institutes of Health
- Study start
- 22 May 1996
- Study completion
- 1 Feb 2010
- First posted
- 2 Aug 2006 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 person's 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 (1/6 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 (e.g. 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 Hodgkin's disease.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (9 listed)
- Patients known to have XLPD and their relatives will be recruited from families who have enrolled in a national XLPD registry.
- All racial and ethnic groups will be considered.
- severe infectious mononucleosis, or
- acquired hypogammaglobulinemia following infectious mononucleosis, or
- nonHodgkin's lymphoma, or
Key exclusion criteria (1 listed)
- Known HIV infection in any patient with XLPD or their relative (blood will not be tested for HIV), complicating medical or psychiatric conditions in unrelated controls.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jul 2017.
- Background: PubMed 48119Purtilo DT, Cassel CK, Yang JP, Harper R. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet. 1975 Apr 26;1(7913):935-40. doi: 10.1016/s0140-6736(75)92004-8.
- Background: PubMed 2882515Skare JC, Milunsky A, Byron KS, Sullivan JL. Mapping the X-linked lymphoproliferative syndrome. Proc Natl Acad Sci U S A. 1987 Apr;84(7):2015-8. doi: 10.1073/pnas.84.7.2015.
- Background: PubMed 1848644Cohen JI. Epstein-Barr virus lymphoproliferative disease associated with acquired immunodeficiency. Medicine (Baltimore). 1991 Mar;70(2):137-60. doi: 10.1097/00005792-199103000-00005.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of X-Linked Lymphoproliferative Disease and Lymphoproliferative Disease, run by National Institute of Allergy and Infectious Diseases (NIAID) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Jul 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00359411, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jul 2017.