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

Recruiting

• Conditions: Immunologic Deficiency Syndromes

• 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

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