NCT00266513

Brief Summary

This study investigates gene abnormalities in Primary Immune Deficiency(PID) with a goal of improving the diagnosis and treatment of patients. The specific disorders include:

  1. 1.X linked hyper IgM Syndrome which is caused by an abnormality in the CD40L gene.
  2. 2.NEMO associated immune deficiency which is caused by an abnormality in a gene called NEMO.
  3. 3.Common variable immunodeficiency (CVID) which has an unknown genetic basis.
  4. 4.Other disorders of immunoglobulin production.
  5. 5.Better characterize the clinical features of CD40 L deficiency and NEMO associated immune deficiency and other related primary immune deficiency syndromes.
  6. 6.Determine the frequency of CD40 L and Nemo abnormalities.
  7. 7.Determine whether particular abnormalities in these genes are associated with more of less severe illness or with specific symptoms.
  8. 8.Explore the basic mechanism by which these altered genes cause immune dysfunction.
  9. 9.Identify other genes causing low immune globulin levels and related primary immune deficient states.

Trial Health

57
Monitor

Trial Health Score

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

Enrollment
119

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Dec 2005

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
terminated

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

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

December 14, 2005

Completed
2 days until next milestone

First Submitted

Initial submission to the registry

December 16, 2005

Completed
Same day until next milestone

First Posted

Study publicly available on registry

December 16, 2005

Completed
7.6 years until next milestone

Study Completion

Last participant's last visit for all outcomes

July 11, 2013

Completed
Last Updated

October 6, 2017

Status Verified

July 11, 2013

First QC Date

December 16, 2005

Last Update Submit

October 5, 2017

Conditions

Hyper-IgM SyndromeEctodermal Dysplasia

Keywords

CD40 LigandNemoGeneticsHyper-IGMEctodermal DysplasiaCVIDHyper-IgM SyndromePrimary Immune Deficiency DisordersCommon Variable Immune Deficiency

Eligibility Criteria

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

You may qualify if:

  • All patients must have a known or suspected immune defect with hyper-IgM syndrome and/or disorders of immunoglobulin production. There will be no limit on age, sex, race, or disability. Normal volunteers must be healthy adults between the age of 18 and 70 years. All study participants enrolled on to this study must agree to allow PI to store research samples. Refusal to let PI store samples may lead to withdrawal fro this specific study.

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)

  • Durandy A, Revy P, Imai K, Fischer A. Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects. Immunol Rev. 2005 Feb;203:67-79. doi: 10.1111/j.0105-2896.2005.00222.x.

    PMID: 15661022BACKGROUND

  • Jain A, Atkinson TP, Lipsky PE, Slater JE, Nelson DL, Strober W. Defects of T-cell effector function and post-thymic maturation in X-linked hyper-IgM syndrome. J Clin Invest. 1999 Apr;103(8):1151-8. doi: 10.1172/JCI5891.

    PMID: 10207167BACKGROUND

  • Durandy A, Revy P, Fischer A. Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes). Adv Immunol. 2004;82:295-330. doi: 10.1016/S0065-2776(04)82007-8. No abstract available.

    PMID: 14975260BACKGROUND

MeSH Terms

Conditions

Hyper-IgM Immunodeficiency SyndromeEctodermal DysplasiaIncontinentia PigmentiPrimary Immunodeficiency DiseasesCommon Variable Immunodeficiency

Condition Hierarchy (Ancestors)

DysgammaglobulinemiaBlood Protein DisordersHematologic DiseasesHemic and Lymphatic DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesImmunologic Deficiency SyndromesImmune System DiseasesAbnormalities, MultipleCongenital AbnormalitiesSkin AbnormalitiesSkin Diseases, GeneticSkin DiseasesSkin and Connective Tissue DiseasesPigmentation Disorders

Study Officials

  • Ashish K Jain, M.D.

    National Institute of Allergy and Infectious Diseases (NIAID)

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

December 16, 2005

First Posted

December 16, 2005

Study Start

December 14, 2005

Study Completion

July 11, 2013

Last Updated

October 6, 2017

Record last verified: 2013-07-11

Locations

US(1)