Screening for genetic causes of immune diseases affecting lymphocytes
Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
This study is trying to find out the genetic reasons behind certain immune diseases that affect white blood cells in people with autoimmune disorders and immunodeficiencies.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 5000 (estimated) |
| Ages | 1 Month to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 7 sites (Bethesda, Maryland and 6 other locations) |
| Trial ID | NCT00246857 on ClinicalTrials.gov |
What this trial studies
This observational study aims to identify the biochemical and genetic causes of inherited immune diseases that disrupt lymphocyte homeostasis. It focuses on patients with conditions such as autoimmune diseases, immunodeficiencies, and lymphoproliferative disorders. Participants, including patients and their relatives, will have their medical records reviewed and blood samples collected for genetic analysis. The study seeks to enroll up to 5000 individuals over a decade to better understand the genetic underpinnings of these immune disorders.
Who should consider this trial
Good fit: Ideal candidates include patients with known or suspected inherited immune cell homeostasis disorders or programmed cell death susceptibility syndromes.
Not a fit: Patients with severely debilitated health status or poor venous access may not benefit from this study due to difficulties in obtaining adequate specimens.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment options for patients with inherited immune deficiencies.
How similar studies have performed: Other studies have shown success in identifying genetic causes of immune disorders, suggesting that this approach is promising.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: Patients known to have or suspected of having an inherited immune cell homeostasis, programmed cell death susceptibility syndrome, lymphocyte developmental block, or defective immune cell effector functions will be eligible for enrollment. We will enroll patients with suspected disease if the investigator agrees that there is a high index of suspicion. Blood relatives of enrolled patients will be eligible for enrollment. There will be no limit as to age, sex, race, or disability. EXCLUSION CRITERIA: Severely debilitated health status or poor venous access may preclude obtaining adequate specimens for analysis. The minimum weight for infants on this protocol is 3 kg because of the limits of maximal acceptable blood draw volumes and minimum requirement for core laboratory tests would exceed the acceptable volume.
Where this trial is running
Bethesda, Maryland and 6 other locations
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
- University of Michigan — Ann Arbor, Michigan, United States (Recruiting)
- Ankara Medical University — Ankara, Turkey (Türkiye) (Recruiting)
- Gazi University — Ankara, Turkey (Türkiye) (Recruiting)
- Hacettepe University — Ankara, Turkey (Türkiye) (Recruiting)
- Marmara University — Istanbul, Turkey (Türkiye) (Recruiting)
- Necemttin Erbakan University — Konya, Turkey (Türkiye) (Recruiting)
Study contacts
- Principal investigator: Helen C Su, M.D. — National Institute of Allergy and Infectious Diseases (NIAID)
- Study coordinator: Helen C Su, M.D.
- Email: hsu@mail.nih.gov
- Phone: (301) 451-8783
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.