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

Recruiting

• Conditions: Immunologic Deficiency Syndromes
• Interventions: Procedure: blood sampling or mouth swap; Procedure: blood sampling; Procedure: blood sampling and skin biopsy

• Registration Number: NCT02735824
• Lead Sponsor: University Children's Hospital, Zurich

Brief Summary

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.

Detailed Description

Patients with a suspected immunodeficiency will be identified and invited to participate. Upon agreement, an additional blood sample will be collected when they have their routine bloods taken. If the study participants undergoes anaesthesia for any other reason, a small skin biopsy will be taken as well. Additional samples including blood samples or mouth swabs will be taken from healthy family members. Blood from healthy controls will only be taken when there is a clinical need for blood sampling (or when the study participant is already anaesthetised for any other reason) and not for research purposes only.

Study Timeline

• Study Start: 2016-02
• Study First Submitted: 2016-03-10
• Study First Submitted QC: 2016-04-07
• Study First Posted: 2016-04-13
• Status Verified: 2024-01
• Last Update Submitted: 2024-01-15
• Last Update Posted: 2024-01-18
• Primary Completion: 2027-07
• Study Completion: 2027-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 500

Inclusion Criteria

• Patient with suspected PID, healthy relative or healthy volunteer
• consent

Exclusion Criteria

• none

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
healthy relatives of patients with PID	blood sampling or mouth swap	From healthy relatives of patients with suspected PID from whom consent to participate was obtained, nucleated cells will be used for genetic testing in order to compare their genetic information with the one form their relatives with suspected PID.
Healthy volunteers	blood sampling	From healthy volunteers from whom consent to participate was obtained, nucleated blood cells will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement. The data obtained will be compared to age matched patients with suspected PID.
patients with suspected PID	blood sampling and skin biopsy	From included patients with suspected primary immunodeficiency (PID), i.e. patients with recurrent/unusual infection, immune dysregulation and/or susceptibility to malignancies from whom consent to participate was obtained, nucleated blood cells and/or fibroblasts from skin biopsy will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement.

Primary Outcome Measures

Name	Time	Method
Number of patients with suspected PID for whom a genetic cause has been identified	Through study completion, an average of 3 years	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.

Trial Locations

Locations (2)

Division of Immunology; 🇨🇭 Zurich, ZH, Switzerland

University of Basel Children's Hospital; 🇨🇭 Basel, Switzerland