CClinicalTrials.gg
CompletedNCT03414528Updated May 6, 2026

Identification of New Inborn Errors of Immunity

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

Sponsored by University of Zurich · Observational

Study type
Observational
Model
Family-based
Time perspective
Prospective
Enrollment
9
Sex
All
01

Study summary

Analysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing.

Transcriptome analysis of patients with molecularly undetermined PID.

02

Conditions studied

  • Primary Immune Deficiency Disorder
03

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 unidentified inborn error of immunity (primary immunodeficiency, PID) or optionally healthy direct relatives, to determine whether they are carriers of the disease

Inclusion criteria

  • Patients with primary immunodeficiency (PID)
  • Male and Female participants 0 years to adult age (any)
  • Written informed consent by the participant after information about the research project

Exclusion criteria

Exclusion Criteria:

  • Secondary immunodeficiency
  • Refusal to enter the study
04

Study design

Observational model
Family-based
Time perspective
Prospective
Enrollment
9 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • Patients with PID

    Diagnostic Test: Diagnostic Test

Interventions

  • Diagnostic testDiagnostic Test

    Analysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing Transcriptome analysis of patients with molecularly undetermined PID

05

What researchers measure

Primary outcomes

  1. Identification of the genetic defects

    Whole exome/Genome sequencing will be done to identify new mutations leading to immunodeficiency

    Time frame: 10 years

06

Study locations

1 site
  • University Children's Hospital Zurich
    Zurich, 8032, Switzerland
07

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.

08

Registry details

Key details

Study ID
NCT03414528
Lead sponsor
University of Zurich
Responsible party
Janine Reichenbach (Co-Head Division Immunology, University of Zurich) — Principal investigator
First posted
Jan 30, 2018
Start date
Sep 23, 2016
Primary completion
Aug 31, 2025
Completion
Aug 31, 2025
Last update
May 6, 2026

Study contacts

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 ↗

Not currently enrolling

This study is completed, as verified in May 2026. You cannot join it, but the record below documents what was studied.

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