Pathophysiology of Inborn Immunodeficiencies
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Diagnostic Test.
- Who it may be relevant to
- Registry conditions: Primary Immune Deficiency Disorder. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Switzerland
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Pathophysiologie Angeborener Immundefekte
Overview
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.
Interventions
- Diagnostic test Diagnostic Test
Characterisation of cellular and functional phenotype in different PIDs
Primary outcome measures
- Characterisation of cellular phenotype in different PIDs [Time frame: immediately after sampling of biological specimen or up to 10 years later from frozen samples]
- Characterisation of functional phenotype in different PIDs [Time frame: immediately after sampling of biological specimen or up to 10 years later from frozen samples]
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]
Eligibility 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
Switzerland · 1 center
- University Children's Hospital Zurich — Zurich
Identifiers
NCT: NCT03422614 · Patho_PID