Genetic exploration of primary immunodeficiencies
Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
University Children's Hospital, Zurich · NCT02735824
This study is trying to find new genetic causes of primary immunodeficiencies in people who have frequent infections by comparing their genetic information with that of healthy individuals.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Sex | All |
| Sponsor | University Children's Hospital, Zurich (other) |
| Locations | 2 sites (Zurich, Canton of Zurich and 1 other locations) |
| Trial ID | NCT02735824 on ClinicalTrials.gov |
What this trial studies
This study investigates individuals with suspected primary immunodeficiency by comparing their genetic data with that of healthy controls. Participants will provide blood samples during routine procedures, and additional samples may be collected from healthy family members. The goal is to identify new genetic causes of immunodeficiency, which may present as recurrent infections or immune dysregulation. The study is observational and does not involve any experimental treatments.
Who should consider this trial
Good fit: Ideal candidates include individuals with suspected primary immunodeficiency and their healthy relatives.
Not a fit: Patients without suspected immunodeficiency or those who do not have healthy relatives willing to participate may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and diagnosis of primary immunodeficiencies, ultimately improving patient care.
How similar studies have performed: Other studies have successfully identified genetic causes of immunodeficiencies, suggesting that this approach may yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patient with suspected PID, healthy relative or healthy volunteer * consent Exclusion Criteria: * none
Where this trial is running
Zurich, Canton of Zurich and 1 other locations
- Division of Immunology — Zurich, Canton of Zurich, Switzerland (RECRUITING)
- University of Basel Children's Hospital — Basel, Switzerland (RECRUITING)
Study contacts
- Principal investigator: Jana M Pachlopnik Schmid, MD PhD — University Children's Hospital, Zurich
- Study coordinator: Jana M Pachlopnik Schmid, MD PhD
- Email: jana.pachlopnik@kispi.uzh.ch
- Phone: +41 44 266 73 11
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: Immunologic Deficiency Syndromes