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Pathophysiology of Inborn Immunodeficiencies

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ClinicalTrials.gov Identifier: NCT03422614
Recruitment Status : Recruiting
First Posted : February 6, 2018
Last Update Posted : February 6, 2018
Sponsor:
Information provided by (Responsible Party):
Janine Reichenbach, 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.

Condition or disease Intervention/treatment
Primary Immune Deficiency Disorder Diagnostic Test: Diagnostic Test

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Study Type : Observational
Estimated Enrollment : 300 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Pathophysiologie Angeborener Immundefekte
Actual Study Start Date : July 1, 2015
Estimated Primary Completion Date : July 1, 2025
Estimated Study Completion Date : July 1, 2025


Group/Cohort Intervention/treatment
Patient
Patients with Primary Immunodeficiency
Diagnostic Test: Diagnostic Test
Characterisation of cellular and functional phenotype in different PIDs

Control
Healthy Controls
Diagnostic Test: Diagnostic Test
Characterisation of cellular and functional phenotype in different PIDs




Primary Outcome Measures :
  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 Outcome Measures :
  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)



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03422614


Contacts
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Contact: Janine Reichenbach, Prof. Dr. +41442667311 janine.reichenbach@kispi.uzh.ch
Contact: Ulrich Siler, PD Dr. +41442667311 ulrich.siler@kispi.uzh.ch

Locations
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Switzerland
University Children's Hospital Zurich Recruiting
Zurich, Switzerland, 8032
Contact: Janine Reichenbach, Prof. Dr.    +41442667311    janine.reichenbach@kispi.uzh.ch   
Contact: Ulrich Siler, PD Dr.    +41442667311    ulrich.siler@kispi.uzh.ch   
Sponsors and Collaborators
University of Zurich
Investigators
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Principal Investigator: Janine Reichenbach, Prof. Dr. University Children's Hospital, Zurich
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Responsible Party: Janine Reichenbach, Co-Head Division Immunology, University of Zurich
ClinicalTrials.gov Identifier: NCT03422614    
Other Study ID Numbers: Patho_PID
First Posted: February 6, 2018    Key Record Dates
Last Update Posted: February 6, 2018
Last Verified: January 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: We are planning to share IPD in the form of Scientific publications in peer-reveiwed journals and communications at Scientific meetings

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Immunologic Deficiency Syndromes
Immune System Diseases