ClinicalTrials.gg
RecruitingNCT03422614Updated May 6, 2026

Pathophysiology of Inborn Immunodeficiencies

An observational study in Primary Immune Deficiency Disorder, sponsored by University of Zurich. Recruiting at 1 site in Switzerland. Per ClinicalTrials.gov, last updated 2026-05-06.

Sponsored by University of Zurich · Observational

From the registry’s dates

  • Started Mar 2015; still recruiting 11 years 8 months later.
Study type
Observational
Model
Case-control
Time perspective
Prospective
Enrollment
300
Sex
All
01

Study summary

The pathophysiology of primary immunodeficiencies (PID), which encompass a broad range of different diseases with susceptibility to infection and/or a deregulated inflammatory response, is poorly understood. Available treatments are often not specific for a distinct target and might be associated with side effects. To elucidate pathophysiology of different PIDs, stool, urine, blood, tissue biopsies and/or bone marrow will be collected and analysed for anti-microbial activity and inflammatory response. In a second step, targeted treatment for different PIDs might be developed preclinically and ex vivo according to underlying pathophysiology.

02

Conditions studied

  • Primary Immune Deficiency Disorder
03

In context

Primary Immunodeficiency Diseases

211 studies on the registry are indexed under Primary Immunodeficiency Diseases; 51 are open to participants now.

This study's planned enrollment of 300 is above the median of 137 across 77 observational studies indexed under Primary Immunodeficiency Diseases.

Browse Primary Immunodeficiency Diseases studies →

Lead sponsor

University of Zurich is the lead sponsor of 1,049 studies on the registry; 133 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

Patients with PID and healthy controls of all ages might be tested, recruitment is in a tertiary care hospital setting

Eligibility criteria

Inclusion Criteria:

  • Clinical diagnosis of an inborn error of immunity (primary immunodeficiency, PID)
  • Clinically healthy (non-age matched) volunteer

Exclusion Criteria:

  • exclusion of an inborn error of immunity
  • secondary immunodeficiency
  • refusal to enter the study
05

Study design

Observational model
Case-control
Time perspective
Prospective
Enrollment
300 participants (estimated)
Patient registry
No

Groups and cohorts

  • Patient

    Patients with Primary Immunodeficiency

    Diagnostic Test: Diagnostic Test

  • Control

    Healthy Controls

    Diagnostic Test: Diagnostic Test

Interventions

  • Diagnostic testDiagnostic Test

    Characterisation of cellular and functional phenotype in different PIDs

06

What researchers measure

Primary outcomes

  1. Characterisation of cellular phenotype in different PIDs

    Immune cell subsets will be analysed for Surface marker Expression or cell activation pathways

    Time frame: immediately after sampling of biological specimen or up to 10 years later from frozen samples

  2. Characterisation of functional phenotype in different PIDs

    Immune cell subsets will be analysed for cytokine production or cell activation pathways

    Time frame: immediately after sampling of biological specimen or up to 10 years later from frozen samples

Secondary outcomes

  1. Identification of potential targets for pathophysiology-specific treatment, or for curative treatment such as gene therapy for different PIDs ex vivo

    Targets for development of new Treatment for PID identfied by Primary outcome analyses (see above) can be pathways, Surface marker Expression or cytokine production. Therefore new Treatment developed might consist of medication interfering with cell activation pathways, cytokine production (e.g. inhibitory antibodies against specific cytokines) or Surface marker Expression (e.g. inhibitory or stimulatory ligands for certain cell Surface receptors)

    Time frame: immediately after sampling of biological specimen or up to 10 years later from frozen samples

07

Study locations

1 of 1 sites recruiting
08

References and documents

Individual participant data

Plan to share: Undecided — We are planning to share IPD in the form of Scientific publications in peer-reveiwed journals and communications at Scientific meetings

No publications or documents are linked to this record.

09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reachedSimilar studies: half by the dot; the band is the middle halfHalf of similar studies reached it by the dot; the band is the middle half, from a quarter to three quarters

Started Mar 2015 (actual). Primary completion is estimated for Mar 2033, 216 months after the start.

Of 50 observational studies under Primary Immunodeficiency Diseases, half reached primary completion within 72 months of starting (the median), counting those still running; a quarter within 30. This study's planned 216 months is above that.

How these figures are worked out, and which studies are left out of them.

Registered
Jan 10, 2018
First posted
Feb 6, 2018
StartActual
Mar 1, 2015
Primary completionEst.
Mar 30, 2033
CompletionEst.
Mar 30, 2033
Last update
May 6, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on May 6, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT03422614
Responsible party
Janine Reichenbach (Co-Head Division Immunology, University of Zurich) — Principal investigator
First posted
Feb 6, 2018
Start date
Mar 1, 2015
Primary completion
Mar 30, 2033 (estimated)
Completion
Mar 30, 2033 (estimated)
Last update
May 6, 2026

Study contacts

Janine Reichenbach, Prof. Dr.
Contact
janine.reichenbach@kispi.uzh.ch
+41442667311
Ulrich Siler, PD Dr.
Contact
ulrich.siler@kispi.uzh.ch
+41442667311
Janine Reichenbach, Prof. Dr.
principal investigator · University Children's Hospital, Zurich

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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