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NCT03414528 Clinical Trial

Identification of New Inborn Errors of Immunity

Primary Immune Deficiency Disorder Clinical Trial

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

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT03414528
Other study ID # Ident_PID
Secondary ID
Status Recruiting
Phase N/A
First received January 10, 2018
Last updated January 22, 2018
Start date August 15, 2015
Est. completion date August 15, 2025

Study information
Verified date January 2018
Source University of Zurich
Contact Janine Reichenbach, Prof. Dr.
Phone +41442667311
Email janine.reichenbach@kispi.uzh.ch
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

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

Transcriptome analysis of patients with molecularly undetermined PID.

Recruitment information / eligibility
Status Recruiting
Enrollment 300
Est. completion date August 15, 2025
Est. primary completion date August 15, 2025
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group N/A and older
Eligibility 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

Related Conditions & MeSH terms

Intervention

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

Locations
Country Name City State
Switzerland University Children's Hospital Zurich Zurich

Sponsors (1)
Lead Sponsor Collaborator
University of Zurich

Country where clinical trial is conducted

Switzerland, 

Outcome
Type Measure Description Time frame Safety issue
Primary Identification of the genetic defects Whole exome/Genome sequencing will be done to identify new mutations leading to immunodeficiency 10 years
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