Skip to main content
OpenTrials
Recruiting

NCT Number: NCT03422614

Pathophysiology of Inborn Immunodeficiencies

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Primary Immune Deficiency Disorder Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Immune System Diseases Immunologic Deficiency Syndromes Primary Immunodeficiency Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Diagnostic Test

Diagnostic Test

Characterisation of cellular and functional phenotype in different PIDs

Primary outcomes

  1. Characterisation of cellular phenotype in different PIDs

    Time frame: 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

  2. Characterisation of functional phenotype in different PIDs

    Time frame: 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 outcomes

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

    Time frame: 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)

Study contacts

Contact information is provided by the study sponsor or research team.

Janine Reichenbach, Prof. Dr.

CONTACT

[email protected]

+41442667311

Ulrich Siler, PD Dr.

CONTACT

[email protected]

+41442667311

Sponsors and collaborators

Lead sponsor

University of Zurich

Other

Registry information

Official study title

Pathophysiologie Angeborener Immundefekte

Important dates

Study start
2015
Primary completion
2033
Study completion
2033
First posted
Feb 6, 2018
Registry last updated
May 6, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.