NCT03414528

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
9

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Sep 2016

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 23, 2016

Completed
1.3 years until next milestone

First Submitted

Initial submission to the registry

January 10, 2018

Completed
20 days until next milestone

First Posted

Study publicly available on registry

January 30, 2018

Completed
7.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

August 31, 2025

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

August 31, 2025

Completed
Last Updated

May 6, 2026

Status Verified

May 1, 2026

Enrollment Period

8.9 years

First QC Date

January 10, 2018

Last Update Submit

May 5, 2026

Conditions

Primary Immune Deficiency Disorder

Outcome Measures

Primary Outcomes (1)

  • Identification of the genetic defects

    Whole exome/Genome sequencing will be done to identify new mutations leading to immunodeficiency

    10 years

Study Arms (1)

Patients with PID

Diagnostic Test: Diagnostic Test

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

Patients with PID

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
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

You may qualify if:

  • 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

You may not qualify if:

  • Secondary immunodeficiency
  • Refusal to enter the study

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University Children's Hospital Zurich

Zurich, 8032, Switzerland

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA

MeSH Terms

Conditions

Primary Immunodeficiency Diseases

Interventions

Diagnostic Tests, Routine

Condition Hierarchy (Ancestors)

Genetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesImmunologic Deficiency SyndromesImmune System Diseases

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and ProceduresDiagnosis

Study Officials

  • Janine Reichenbach, Prof. Dr.

    University Children's Hospital, Zurich

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
FAMILY BASED
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Co-Head Division Immunology

Study Record Dates

First Submitted

January 10, 2018

First Posted

January 30, 2018

Study Start

September 23, 2016

Primary Completion

August 31, 2025

Study Completion

August 31, 2025

Last Updated

May 6, 2026

Record last verified: 2026-05

Locations

CH(1)