Genetic Basis of Immunodeficiency

ConditionSevere Combined Immunodeficiency

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age6-99

SponsorNational Heart, Lung, and Blood Institute (NHLBI)

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Patients (index cases): 6 months of age and older

Siblings: 6 months of age and older

Non-sibling relatives (biological parent, aunt, uncle or grandparent): 18 years or older

Disqualifiers

Patients with a known diagnosis

Patients with a particular immunological phenotype that is not of interest to the research conducted under this study.

Pregnancy or lactation

Adults with current decisional impairment

Trial population

Primary clinical

Trial design

Design model

Family-based

Time perspective

Cross-sectional

Treatments tested in this trial

Not listed

Trial groups

100 Participants

are grouped into 3 trial groups

Group A: Non-sibling relative

Group B: Patients (index cases)

Group C: Siblings

Trial outcomes

Primary outcomes

To identify forms of inherited immunodeficiency resulting from mutation of yc dependent cytokines, components of their receptors, or signaling molecules in their pathways

In an effort to determine the cause of the immunodeficiency, we will perform studies that may include but not be limited to evaluating the levels of expression of protein and/or mRNA, obtaining DNA sequence data, performing epigenetic studies, and evaluating biological function using cellular, biochemical, or other molecular studies.

Time frame

ongoing

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

National Heart, Lung, and Blood Institute (NHLBI)

Lead sponsor

Source ClinicalTrials.gov

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