Pathophysiology of Inborn Immunodeficiencies

NCT03422614 | Recruiting

• 1 other identifier: Patho_PID
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

The pathophysiology of primary immunodeficiencies (PID), which encompass a broad range of different diseases with susceptibility to infection and/or a deregulated inflammatory response, is poorly understood. Available treatments are often not specific for a distinct target and might be associated with side effects. To elucidate pathophysiology of different PIDs, stool, urine, blood, tissue biopsies and/or bone marrow will be collected and analysed for anti-microbial activity and inflammatory response. In a second step, targeted treatment for different PIDs might be developed preclinically and ex vivo according to underlying pathophysiology.

Conditions

Primary Immune Deficiency Disorder

Outcome Measures

Primary Outcomes (2)

• Characterisation of cellular phenotype in different PIDs

  Immune cell subsets will be analysed for Surface marker Expression or cell activation pathways

  immediately after sampling of biological specimen or up to 10 years later from frozen samples

• Characterisation of functional phenotype in different PIDs

  Immune cell subsets will be analysed for cytokine production or cell activation pathways

  immediately after sampling of biological specimen or up to 10 years later from frozen samples

Secondary Outcomes (1)

• Identification of potential targets for pathophysiology-specific treatment, or for curative treatment such as gene therapy for different PIDs ex vivo

  immediately after sampling of biological specimen or up to 10 years later from frozen samples

Study Arms (2)

Patient

Patients with Primary Immunodeficiency

Diagnostic Test: Diagnostic Test

Control

Healthy Controls

Diagnostic Test: Diagnostic Test

Interventions

Diagnostic Test DIAGNOSTIC_TEST

Characterisation of cellular and functional phenotype in different PIDs

Control; Patient

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with PID and healthy controls of all ages might be tested, recruitment is in a tertiary care hospital setting

You may qualify if:

• Clinical diagnosis of an inborn error of immunity (primary immunodeficiency, PID)
• Clinically healthy (non-age matched) volunteer

You may not qualify if:

• secondary immunodeficiency
• refusal to enter the study

Sponsors & Collaborators

• University of Zurich: lead

Study Sites (1)

University Children's Hospital Zurich

Zurich, 8032, Switzerland

RECRUITING

MeSH Terms

Conditions

Primary Immunodeficiency Diseases

Interventions

Diagnostic Tests, Routine

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immunologic Deficiency Syndromes; Immune System Diseases

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and Procedures; Diagnosis

Study Officials

• Janine Reichenbach, Prof. Dr.

  University Children's Hospital, Zurich

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Janine Reichenbach, Prof. Dr.

CONTACT

+41442667311; janine.reichenbach@kispi.uzh.ch

Ulrich Siler, PD Dr.

CONTACT

+41442667311; ulrich.siler@kispi.uzh.ch

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• 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: February 6, 2018
• Study Start: March 1, 2015
• Primary Completion (Estimated): March 30, 2033
• Study Completion (Estimated): March 30, 2033
• Last Updated: May 6, 2026

Record last verified: 2026-05

Locations

CH (1)