Genetic Basis of Immunodeficiency

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Heart, Lung, and Blood Institute (NHLBI)
Study ID
NCT00055172
Status
Recruiting
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Conditions

  • Severe Combined Immunodeficiency

Eligibility Criteria

Sex
ALL
Age
6 Months - 99 Years
Healthy Volunteers
Not accepted

Study Details

This study will examine the role of hereditary factors in different forms of severe combined immunodeficiency (SCID). Patients with immunodeficiencies may be eligible for this study. Candidates include: * Patients with diminished numbers of T cells or NK cells or both, or * Patients with normal T cell and NK cell numbers but diminished T cell, B cell, or NK cell function. Relatives of patients will also be studied. Participants will have blood samples collected for genetic analysis in studies related to SCID at the National Institutes of Health and other institutions.

Key Dates

Start date
Apr 5, 2004
Status verified
Dec 2025

Study Design

Enrollment
100 participants (estimated)

Arms

  • Arm: Non-sibling relative
    18 years of age or older
  • Arm: Patients (index cases)
    Patients (index cases), 6 months of age or older
  • Arm: Siblings
    Siblings, 6 months of age or older

Primary Outcome Measure

To identify forms of inherited immunodeficiency resulting from mutation of yc dependent cytokines, components of their receptors, or signaling molecules in their pathways [ Time Frame: ongoing ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222

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By research site
National Institutes of Health Clinical Center· Bethesda, MD

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