Genetic exploration of primary immunodeficiencies
Official title: Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Run by University Children's Hospital, Zurich · NCT02735824 · Data updated 2026-11-12
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 |
|---|---|
| Sex | All |
| Enrollment | 500 (estimated) |
| Sponsor | University Children's Hospital, Zurich Academic / other |
| Locations | 1 site (Zurich, Canton of Zurich) |
| Status | Recruiting |
| Started | February 2016 |
| Main results expected | July 2027 |
| Study ends | December 2027 |
| Registry record updated | May 14, 2026 |
| Trial ID | NCT02735824 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals with suspected primary immunodeficiency and their healthy relatives.
✕Probably not a fit
Patients without suspected immunodeficiency or those who do not have healthy relatives willing to participate may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: Other studies have successfully identified genetic causes of immunodeficiencies, suggesting that this approach may yield valuable insights.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Patients: Pediatric patients (in/outpatient or referred) with suspected or confirmed Inborn Errors of Immunity. * Relatives: Healthy or affected biological relatives of enrolled patients. * Controls: Healthy volunteers with no history of chronic immunological, inflammatory, or infectious disease. * Consent: Ability to provide signed informed consent (or guardian consent).
Where it's running
-
Division of Immunology
Zurich, Canton of Zurich, 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 44 249 64 70
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.