Examining the genetic factors behind severe combined immunodeficiency
The Determination of Genetic Basis Of Immunodeficiency
National Institutes of Health Clinical Center (CC) · NCT00055172
This study is trying to find out how genetics affects severe combined immunodeficiency by looking at blood samples from patients and their family members.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 6 Months to 99 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) (nih) |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00055172 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the hereditary factors contributing to various forms of severe combined immunodeficiency (SCID). It focuses on the role of specific cytokines and their receptors in immune function. Blood samples will be collected from participants for genetic analysis to better understand the genetic basis of inherited immunodeficiencies. Both patients with immune deficiencies and their relatives will be included in the study.
Who should consider this trial
Good fit: Ideal candidates include patients aged 6 months and older with diminished immune cell counts or function, as well as their relatives.
Not a fit: Patients with a known diagnosis of immunodeficiency or those with specific immunological phenotypes not relevant to the study may not benefit.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and potential treatments for severe combined immunodeficiency.
How similar studies have performed: Other studies have shown success in identifying genetic factors in immunodeficiencies, making this approach promising.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)
Study contacts
- Principal investigator: Warren J Leonard, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
- Study coordinator: Warren J Leonard, M.D.
- Email: wl2w@nih.gov
- Phone: (301) 496-0098
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Severe Combined Immunodeficiency, Cytokines, Inherited Immunodeficiency, Natural History