Identification of New Inborn Errors of Immunity | NCT03414528

Studies
Identification of New Inborn Errors of Immunity

NCT03414528

Sponsor

University of Zurich

Status

Completed

Last Update Posted

May 6, 2026Actual

Enrollment

9Actual

Phase

Not provided

Conditions

Primary Immune Deficiency Disorder

Interventions

Diagnostic Test

Countries

Switzerland

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

May 2026

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 23, 2016Actual

Primary Completion Date

Aug 31, 2025Actual

Completion Date

Aug 31, 2025Actual

First Submitted Date

Jan 10, 2018

First Submission Date that Met QC Criteria

Jan 22, 2018

First Posted Date

Jan 30, 2018Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

May 5, 2026

Last Update Posted Date

May 6, 2026Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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 provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

9Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Patients with PID			Diagnostic Test: Diagnostic Test

Interventions

Name	Type	Description	Arm Group Labels	Other Names
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

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Janine Reichenbach, Prof. Dr.	University Children's Hospital, Zurich	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
University Children's Hospital Zurich		Zurich		8032	Switzerland

IPD Sharing Statement Module

Plan to Share IPD

Undecided

Description

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

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D000081207	Primary Immunodeficiency Diseases

Ancestor Terms

ID	Term
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D007153	Immunologic Deficiency Syndromes
D007154	Immune System Diseases

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D003955	Diagnostic Tests, Routine

Ancestor Terms

ID	Term
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis

Browse Leaves

Not provided

Browse Branches

Not provided