Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies

ConditionsImmunologic Deficiency Syndromes Primary Immune Deficiency (PID)

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorUniversity Children's Hospital, Zurich

About this trial

Individuals with suspected primary immunodeficiency will be studied and the results compared with healthy controls. Primary immunodeficiency may manifest as recurrent, severe or unusual infections as well as signs and symptoms of immune dysregulation such as autoimmunity or lymphoproliferation.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

Patients: Pediatric patients (in/outpatient or referred) with suspected or confirmed Inborn Errors of Immunity.

Relatives: Healthy or affected biological relatives of enrolled patients.

Controls: Healthy volunteers with no history of chronic immunological, inflammatory, or infectious disease.

Consent: Ability to provide signed informed consent (or guardian consent).

Disqualifiers

None

Trial population

The study population consists of pediatric patients (inpatients and outpatients) and individuals referred for immunological evaluation at the University Children's Hospital Zurich from national and international centers. To facilitate comparative analysis, the population also includes healthy biological relatives of these patients and healthy volunteers recruited from the Zurich area and across Switzerland.

Trial design

Design model

Case-only

Time perspective

Prospective

Treatments tested in this trial

Skin Biopsy
Procedure/Surgery
A punch biopsy of the skin and underlying connective tissue is performed to establish fibroblast cultures. For pediatric patients, the procedure is conducted while the patient is under general anesthesia for other clinical indications. For adult patients, the biopsy is performed under local anesthesia as needed. This intervention follows cosmetic/aesthetic considerations and is therefore typically collected from the inner aspect of the upper arm.
Mouth Swab or Saliva Collection
Procedure/Surgery
Non-invasive collection of epithelial cells via a swab of the buccal mucosa (inner cheek) to obtain biological material for comparative genetic analysis with minimal burden.
Blood Sampling
Procedure/Surgery
Collection of nucleated blood cells, serum, and plasma from blood and subsequent genetic testing, functional assays, as well as antibody and cytokine measurements. To minimize risk and burden, blood sampling in pediatric patients is opportunistic (performed during routine clinical diagnostics or while under anesthesia) and capped at 1% of total blood volume per sampling and 3% over a 4-week period (adjusted by body weight). In adult patients, up to 50mL venous blood is sampled, typically performed during clinic visits or routine check-ups.

Treatment groups

500 Participants

are divided into 3 treatment groups

Group A: Patients with suspected PID3 interventions

Group B: Healthy Relatives of Patients with PID2 interventions

Group C: Healthy Volunteers2 interventions

Trial outcomes

Primary outcomes

Number of patients with suspected PID for whom a genetic cause has been identified

Number of patients with suspected primary immunodeficiency included in the study for whom a diagnosis can be made with the genetic and functional data obtained from patients, their relatives and healthy volunteers.

Time frame

Through study completion, an average of 3 years

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

University Children's Hospital, Zurich

Lead sponsor

Source ClinicalTrials.gov

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