Pathophysiology of Inborn Immunodeficiencies

Recruiting

• Conditions: Primary Immune Deficiency Disorder
• Interventions: Diagnostic Test: Diagnostic Test

• Registration Number: NCT03422614
• Lead Sponsor: University of Zurich

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2015-07-01
• Status Verified: 2018-01
• Study First Submitted: 2018-01-10
• Study First Submitted QC: 2018-01-29
• Last Update Submitted: 2018-01-29
• Study First Posted: 2018-02-06
• Last Update Posted: 2018-02-06
• Primary Completion: 2025-07-01
• Study Completion: 2025-07-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 300

Inclusion Criteria

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

Exclusion Criteria

• exclusion of an inborn error of immunity
• secondary immunodeficiency
• refusal to enter the study

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Control	Diagnostic Test	Healthy Controls
Patient	Diagnostic Test	Patients with Primary Immunodeficiency

Primary Outcome Measures

Name	Time	Method
Characterisation of cellular phenotype in different PIDs	immediately after sampling of biological specimen or up to 10 years later from frozen samples	Immune cell subsets will be analysed for Surface marker Expression or cell activation pathways
Characterisation of functional phenotype in different PIDs	immediately after sampling of biological specimen or up to 10 years later from frozen samples	Immune cell subsets will be analysed for cytokine production or cell activation pathways

Secondary Outcome Measures

Name	Time	Method
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	Targets for development of new Treatment for PID identfied by Primary outcome analyses (see above) can be pathways, Surface marker Expression or cytokine production. Therefore new Treatment developed might consist of medication interfering with cell activation pathways, cytokine production (e.g. inhibitory antibodies against specific cytokines) or Surface marker Expression (e.g. inhibitory or stimulatory ligands for certain cell Surface receptors)

Trial Locations

Locations (1)

University Children's Hospital Zurich; 🇨🇭 Zurich, Switzerland