Identification of New Inborn Errors of Immunity

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03414528

Enrollment

Registered

2018-01-30

Start date

2016-09-23

Completion date

2025-08-31

Last updated

2026-05-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Primary Immune Deficiency Disorder

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.

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

Study design

Observational model

FAMILY_BASED

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

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

Design outcomes

Primary

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

Countries

Switzerland

Contacts

PRINCIPAL_INVESTIGATORJanine Reichenbach, Prof. Dr.

University Children's Hospital, Zurich

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: May 7, 2026