Pathophysiology of Inborn Immunodeficiencies
ConditionPrimary Immune Deficiency Disorder
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUniversity of Zurich
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Clinical diagnosis of an inborn error of immunity (primary immunodeficiency, PID)
Clinically healthy (non-age matched) volunteer
Disqualifiers
exclusion of an inborn error of immunity
secondary immunodeficiency
refusal to enter the study
Trial population
Patients with PID and healthy controls of all ages might be tested, recruitment is in a tertiary care hospital setting
Trial design
Design model
Case-control
Time perspective
Prospective
Treatments tested in this trial
Diagnostic Test
Diagnostic testCharacterisation of cellular and functional phenotype in different PIDs
Treatment groups
300 Participants
are divided into 2 treatment groupsGroup A: Patient1 intervention
Group B: Control1 intervention
Trial outcomes
Primary outcomes
1
Characterisation of cellular phenotype in different PIDs
Immune cell subsets will be analysed for Surface marker Expression or cell activation pathways
Time frame
immediately after sampling of biological specimen or up to 10 years later from frozen samples2
Characterisation of functional phenotype in different PIDs
Immune cell subsets will be analysed for cytokine production or cell activation pathways
Time frame
immediately after sampling of biological specimen or up to 10 years later from frozen samplesSecondary outcomes
1
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)
Time frame
immediately after sampling of biological specimen or up to 10 years later from frozen samplesSponsors and contacts
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Source ClinicalTrials.gov