Genetic Basis of Immunodeficiency
The Determination of Genetic Basis Of Immunodeficiency
- Severe Combined Immunodeficiency
At a glance
- Phase
- Phase not stated
- Study type
- Observational
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
- Enrolment target
- 100
- Started
- 5 April 2004
- Main results due
- Not stated
- Study sites
- 1
- Registry updated
- 28 September 2026
Can you take part?
- Ages 6 months to 99 years.
- Open to any sex.
- You need the condition being studied — healthy volunteers are not accepted.
These are the headline rules only. Every study has a longer list, and whether you are eligible is decided by the research team at the site — never by this page.
Read the full eligibility criteria
* INCLUSION CRITERIA: Index cases to be included are those with diminished numbers of T cells and/or NK cells and/or B cells or other immune cells or those who have normal numbers of T cell, B cells, NK cells and other immune cells but diminished function of one or more immune cells. Relatives of affected individuals may also be studied * 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 EXCLUSION CRITERIA: * 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
What this study is about
In the sponsor’s own words, from the registry.
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.
Study sites(1)
National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Recruiting
Showing 1 of 1 sites. 1 of the 1 site on this study is recruiting right now — a site can stop enrolling while the study as a whole is still open.
Source: ClinicalTrials.gov record NCT00055172. Trialion does not run this study, is not paid to refer anyone to it, and cannot enrol you. Eligibility is always decided by the research team at the site.
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