Actively Recruiting
Pathophysiology of Inborn Immunodeficiencies
Led by University of Zurich · Updated on 2026-05-06
300
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating the underlying causes of primary immunodeficiencies (PID), a group of disorders characterized by increased infection risk and abnormal inflammatory responses. The study aims to better understand the cellular and functional characteristics of various PIDs, which is currently not well known. This information may help guide the development of more specific and targeted treatments in the future, including potential gene therapies. Participants include patients diagnosed with different primary immunodeficiencies as well as healthy volunteers serving as control subjects. Biological samples such as stool, urine, blood, tissue biopsies, and bone marrow will be collected and analyzed for anti-microbial activity and inflammatory responses. These analyses will be performed immediately after sample collection or up to 10 years later from frozen specimens. Participants will provide biological specimens for detailed cellular and functional profiling. Researchers will evaluate these samples to identify potential targets for treatments tailored to specific PID pathophysiology. Outcomes include characterizing cellular and functional phenotypes and identifying candidates for future therapeutic approaches. The study includes long-term sample storage and analysis, with involvement lasting as long as samples are stored and assessed.
CONDITIONS
Brief Title
Pathophysiology of Inborn Immunodeficiencies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Clinical diagnosis of an inborn error of immunity (primary immunodeficiency, PID)
- Clinically healthy (non-age matched) volunteer
You will not qualify if you...
- Exclusion of an inborn error of immunity
- Secondary immunodeficiency
- Refusal to enter the study
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Single timepoint
Participants undergo diagnostic testing including sampling of biological specimens to characterize cellular and functional phenotypes related to immunodeficiencies.
1 visit (in-person)
Duration - Up to 10 years
Participants' biological samples may be analyzed up to 10 years later to identify targets for treatment or gene therapy for primary immunodeficiencies.
Trial Site Locations
Total: 1 location
1
University Children's Hospital Zurich
Zurich, Switzerland, 8032
Actively Recruiting
Research Team
J
Janine Reichenbach, Prof. Dr.
U
Ulrich Siler, PD Dr.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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