Genetic analysis of immune disorders
This study is trying to find out which genes are linked to immune disorders to help patients and their families understand their health risks and how these conditions might be passed down.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 5000 (estimated) |
| Ages | 1 Day to 101 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00001467 on ClinicalTrials.gov |
What this trial studies
This study aims to identify the genes responsible for specific immune disorders, understand the medical problems they cause, and predict the likelihood of developing these disorders and passing them on to children. Participants, including patients with known or suspected genetic immune disorders and their family members, will provide blood samples for genetic and white blood cell analysis. The study will correlate genetic mutations with clinical information to better understand the immune system's function and its role in various diseases. Healthy family members may also participate as controls.
Who should consider this trial
Good fit: Ideal candidates include individuals with known or suspected genetic immune disorders and their family members.
Not a fit: Patients without a genetic basis for their immune disorders or those not related to the studied conditions may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of genetic immune disorders, potentially enhancing patient care and outcomes.
How similar studies have performed: Other studies have shown success in identifying genetic mutations related to immune disorders, indicating that this approach is promising and not entirely novel.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION / EXCLUSION CRITERIA: Probands and their blood relatives, of any age, and ethnicity, who are affected, or suspected of being affected with genetic conditions and immune dysregulations under study are eligible to enroll as patients and family member enrollees.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Gulbu Uzel, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
- Study coordinator: Steven M Holland, M.D.
- Email: sholland@mail.nih.gov
- Phone: (301) 402-7684
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.