Identification of New Inborn Errors of Immunity

Recruiting

• Conditions: Primary Immune Deficiency Disorder
• Interventions: Diagnostic Test: Diagnostic Test

• Registration Number: NCT03414528
• Lead Sponsor: University of Zurich

Brief Summary

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

Transcriptome analysis of patients with molecularly undetermined PID.

Detailed Description

Not available

Study Timeline

• Study Start: 2015-08-15
• Status Verified: 2018-01
• Study First Submitted: 2018-01-10
• Study First Submitted QC: 2018-01-22
• Last Update Submitted: 2018-01-22
• Study First Posted: 2018-01-30
• Last Update Posted: 2018-01-30
• Primary Completion: 2025-08-15
• Study Completion: 2025-08-15

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 300

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients with PID	Diagnostic Test	-

Primary Outcome Measures

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

Trial Locations

Locations (1)

University Children's Hospital Zurich; 🇨🇭 Zurich, Switzerland