Primary Immune Deficiency DisorderNCT03422614
Pathophysiology of Inborn Immunodeficiencies
An observational study of Primary Immune Deficiency Disorder, run by University of Zurich at 1 site in Switzerland.
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Primary Immune Deficiency Disorder
- What is being tested?
- Diagnostic Test
- How many people
- 300 participants
- Where
- 1 siteSwitzerland
- Study dates
- 1 Mar 2015to 30 Mar 2033
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients with PID and healthy controls of all ages might be tested, recruitment is in a tertiary care hospital setting
Who may be able to join
- Clinical diagnosis of an inborn error of immunity (primary immunodeficiency, PID)
- Clinically healthy (non-age matched) volunteer
Who cannot join
- secondary immunodeficiency
- refusal to enter the study
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Switzerland1 site, 1 recruiting
- Recruiting
University Children's Hospital Zurich
Zurich, 8032
Janine Reichenbach, Prof. Dr., +41442667311, janine.reichenbach@kispi.uzh.ch
Ulrich Siler, PD Dr., +41442667311, ulrich.siler@kispi.uzh.ch
About this study
Official title: Pathophysiologie Angeborener Immundefekte
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.
- Conditions
- Primary Immune Deficiency Disorder
- Being tested
- Diagnostic Test
- Medical subject headings
- Primary Immunodeficiency Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Diagnostic TestDiagnostic test
Characterisation of cellular and functional phenotype in different PIDs
| Study group | Role | What they receive |
|---|---|---|
| Patient | Patients with Primary Immunodeficiency Receives: Diagnostic Test: Diagnostic Test | |
| Control | Healthy Controls Receives: Diagnostic Test: Diagnostic Test |
What is being measured
The primary outcome is the main question the study is designed to answer.
Characterisation of cellular phenotype in different PIDs
Immune cell subsets will be analysed for Surface marker Expression or cell activation pathways
Measured: immediately after sampling of biological specimen or up to 10 years later from frozen samples
Characterisation of functional phenotype in different PIDs
Immune cell subsets will be analysed for cytokine production or cell activation pathways
Measured: immediately after sampling of biological specimen or up to 10 years later from frozen samples
Secondary 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)
Measured: immediately after sampling of biological specimen or up to 10 years later from frozen samples
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Feb 2018
- Study start1 Mar 2015
- Primary completion30 Mar 2033 (estimated)
- Study completion30 Mar 2033 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Primary Immune Deficiency DisorderStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Zurich
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Janine Reichenbach, University of Zurich
- Investigators
- Janine Reichenbach, Prof. Dr., Principal investigator, University Children's Hospital, Zurich
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03422614
- Sponsor's protocol ID
- Patho_PID
- Status last verified
- May 2026
- First submitted
- 10 Jan 2018
- Last updated
- 6 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: We are planning to share IPD in the form of Scientific publications in peer-reveiwed journals and communications at Scientific meetings
Study at a glance
From the registry record, last updated by the sponsor on 6 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pathophysiologie Angeborener Immundefekte
- ClinicalTrials.gov ID
- NCT03422614
- Acronym / sponsor ID
- Patho_PID
- Conditions
- Primary Immune Deficiency Disorder
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- University of ZurichUniversity, hospital or other
- Study start
- 1 Mar 2015 (actual)
- Primary completion
- 30 Mar 2033 (estimated)
- Study completion
- 30 Mar 2033 (estimated)
- First posted
- 6 Feb 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patient | – | Diagnostic Test: Diagnostic TestPatients with Primary Immunodeficiency |
| Control | – | Diagnostic Test: Diagnostic TestHealthy Controls |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with PID and healthy controls of all ages might be tested, recruitment is in a tertiary care hospital setting
Key inclusion criteria (2 listed)
- Clinical diagnosis of an inborn error of immunity (primary immunodeficiency, PID)
- Clinically healthy (non-age matched) volunteer
Key exclusion criteria (2 listed)
- secondary immunodeficiency
- refusal to enter the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Diagnostic TestCharacterisation of cellular and functional phenotype in different PIDs | Diagnostic test | Control, Patient |
Primary outcome
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
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
1 secondary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 May 2026.
- Individual participant dataSharing planned: Undecided. We are planning to share IPD in the form of Scientific publications in peer-reveiwed journals and communications at Scientific meetings
Related trials for Primary Immune Deficiency Disorder
Active, not recruitingPhase 1/2
A Beta-only IL-2 ImmunoTherapY Study
Advanced Solid Tumor, Unresectable Solid Tumor
RecruitingObservational study
Natural History of Bronchiectasis
Bronchiectasis, Cystic Fibrosis
RecruitingObservational study
Genetic Analysis of Immune Disorders
DOK 8, STAT1
RecruitingObservational study
Detection and Characterization of Infections and Infection Susceptibility
Immune Deficiencies
RecruitingObservational study
Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
Primary Immune Deficiency
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Janine Reichenbach, Prof. Dr. principal investigator
University Children's Hospital, Zurich
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Immune Deficiency Disorder, run by University of Zurich at 1 site in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Janine Reichenbach, Prof. Dr. (+41442667311, janine.reichenbach@kispi.uzh.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Characterisation of cellular phenotype in different PIDs (time frame: immediately after sampling of biological specimen or up to 10 years later from frozen samples). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 May 2026.