Pathophysiology of Inborn Immunodeficiencies

Primary Immune Deficiency Disorder Clinical Trial

Official title:

Pathophysiologie Angeborener Immundefekte

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03422614
• Other study ID #: Patho_PID
• Status: Recruiting
• Phase: N/A
• First received: January 10, 2018
• Last updated: January 29, 2018
• Start date: July 1, 2015
• Est. completion date: July 1, 2025

Study information

• Verified date: January 2018
• Source: University of Zurich
• Contact: Janine Reichenbach, Prof. Dr.
• Phone: +41442667311
• Email: janine.reichenbach[@]kispi.uzh.ch
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: July 1, 2025
• Est. primary completion date: July 1, 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Immunologic Deficiency Syndromes
• Primary Immune Deficiency Disorder

Intervention

Diagnostic Test:
• Diagnostic Test
Characterisation of cellular and functional phenotype in different PIDs

Locations

Country	Name	City	State
Switzerland	University Children's Hospital Zurich	Zurich

Sponsors (1)

Lead Sponsor	Collaborator
University of Zurich

Country where clinical trial is conducted

Switzerland, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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	Identification of potential targets for pathophysiology-specific treatment, or for curative treatment such as gene therapy for different PIDs ex vivo	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)	immediately after sampling of biological specimen or up to 10 years later from frozen samples