NCT00359411

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 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. ...

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
12

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started May 1996

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

May 22, 1996

Completed
10.2 years until next milestone

First Submitted

Initial submission to the registry

August 1, 2006

Completed
1 day until next milestone

First Posted

Study publicly available on registry

August 2, 2006

Completed
3.5 years until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2010

Completed
Last Updated

July 2, 2017

Status Verified

February 1, 2010

First QC Date

August 1, 2006

Last Update Submit

June 30, 2017

Conditions

X-Linked Lymphoproliferative DiseaseLymphoproliferative DiseaseGenetic Diseases, X-Linked

Keywords

Epstein-Barr VirusB-Cell LymphomaHerpes VirusInfectious Mononucleosis

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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
  • 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.

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

  • 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.

    PMID: 48119BACKGROUND

  • Skare 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.

    PMID: 2882515BACKGROUND

  • Cohen JI. Epstein-Barr virus lymphoproliferative disease associated with acquired immunodeficiency. Medicine (Baltimore). 1991 Mar;70(2):137-60. doi: 10.1097/00005792-199103000-00005.

    PMID: 1848644BACKGROUND

MeSH Terms

Conditions

Lymphoproliferative DisordersGenetic Diseases, X-LinkedEpstein-Barr Virus InfectionsLymphoma, B-CellInfectious Mononucleosis

Condition Hierarchy (Ancestors)

Lymphatic DiseasesHemic and Lymphatic DiseasesImmunoproliferative DisordersImmune System DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesHerpesviridae InfectionsDNA Virus InfectionsVirus DiseasesInfectionsTumor Virus InfectionsLymphoma, Non-HodgkinLymphomaNeoplasms by Histologic TypeNeoplasmsLeukocyte DisordersHematologic Diseases

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

August 1, 2006

First Posted

August 2, 2006

Study Start

May 22, 1996

Study Completion

February 1, 2010

Last Updated

July 2, 2017

Record last verified: 2010-02-01

Locations

US(1)