Identification of New Inborn Errors of Immunity

Overview

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

Full Title of Study: “Towards Identification of New Inborn Errors of Immunity by Whole Exome/Genome Sequencing”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: August 15, 2025

Interventions

  • 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

Arms, Groups and Cohorts

  • Patients with PID

Clinical Trial Outcome Measures

Primary Measures

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

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • University of Zurich
  • Provider of Information About this Clinical Study
    • Principal Investigator: Janine Reichenbach, Co-Head Division Immunology – University of Zurich
  • Overall Official(s)
    • Janine Reichenbach, Prof. Dr., Principal Investigator, University Children’s Hospital, Zurich
  • Overall Contact(s)
    • Janine Reichenbach, Prof. Dr., +41442667311, janine.reichenbach@kispi.uzh.ch

Clinical trials entries are delivered from the US National Institutes of Health and are not reviewed separately by this site. Please see the identifier information above for retrieving further details from the government database.

At TrialBulletin.com, we keep tabs on over 200,000 clinical trials in the US and abroad, using medical data supplied directly by the US National Institutes of Health. Please see the About and Contact page for details.