Identification of New Inborn Errors of Immunity

May 5, 2026 updated by: Janine Reichenbach, University of Zurich

Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing

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

Transcriptome analysis of patients with molecularly undetermined PID.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Actual)

9

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Switzerland
      • Zurich, Switzerland, 8032
        • University Children's Hospital Zurich

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

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

Description

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:

  • Secondary immunodeficiency
  • Refusal to enter the study

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Patients with PID
Diagnostic test: Diagnostic Test
Analysis of DNA samples of patients with molecularly undetermined PID by whole exome/genome sequencing Transcriptome analysis of patients with molecularly undetermined PID

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identification of the genetic defects
Time Frame: 10 years
Whole exome/Genome sequencing will be done to identify new mutations leading to immunodeficiency
10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Zurich

Investigators

  • Principal Investigator: Janine Reichenbach, Prof. Dr., University Children's Hospital, Zurich

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 23, 2016

Primary Completion (Actual)

August 31, 2025

Study Completion (Actual)

August 31, 2025

Study Registration Dates

First Submitted

January 10, 2018

First Submitted That Met QC Criteria

January 22, 2018

First Posted (Actual)

January 30, 2018

Study Record Updates

Last Update Posted (Actual)

May 6, 2026

Last Update Submitted That Met QC Criteria

May 5, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Ident_PID

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD Plan Description

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

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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