[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100265520":3},{"organization":4,"armGroups":7,"interventions":24,"overallOfficials":38,"centralContacts":42,"locations":47,"responsibleParty":65,"collaborators":10,"id":67,"slug":68,"hasResults":69,"nctId":70,"briefTitle":71,"officialTitle":71,"acronym":72,"eligibilityCriteria":73,"healthyVolunteers":74,"sex":75,"minAge":10,"maxAge":10,"enrollmentInfo":76,"targetDuration":10,"studyType":79,"phases":10,"briefSummary":80,"conditions":81,"keywords":10,"overallStatus":50,"whyStopped":10,"lastUpdateSubmitDate":84,"lastUpdatePostDateStruct":85,"startDateStruct":88,"completionDateStruct":90,"leadSponsor":92,"locationsCount":93},{"fullName":5,"class":6},"University Children's Hospital, Zurich","OTHER",[8,16,20],{"label":9,"type":10,"description":11,"interventionNames":12},"Patients with suspected PID",null,"From included patients with suspected primary immunodeficiency (PID), i.e. patients with recurrent\u002Funusual infection, immune dysregulation and\u002For susceptibility to malignancies from whom consent to participate was obtained, nucleated blood cells and\u002For fibroblasts from skin biopsy will be used for genetic testing and functional assays. Blood serum will be used for antibody and cytokine measurement.",[13,14,15],"Procedure: Skin Biopsy","Procedure: Mouth Swab or Saliva Collection","Procedure: Blood Sampling",{"label":17,"type":10,"description":18,"interventionNames":19},"Healthy Relatives of Patients with PID","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.",[14,15],{"label":21,"type":10,"description":22,"interventionNames":23},"Healthy Volunteers","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.",[14,15],[25,30,34],{"type":26,"name":27,"description":28,"armGroupLabels":29,"otherNames":10},"PROCEDURE","Skin Biopsy","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\u002Faesthetic considerations and is therefore typically collected from the inner aspect of the upper arm.",[9],{"type":26,"name":31,"description":32,"armGroupLabels":33,"otherNames":10},"Mouth Swab or Saliva Collection","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.",[17,21,9],{"type":26,"name":35,"description":36,"armGroupLabels":37,"otherNames":10},"Blood Sampling","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.",[17,21,9],[39],{"name":40,"affiliation":5,"role":41},"Jana M Pachlopnik Schmid, MD PhD","PRINCIPAL_INVESTIGATOR",[43],{"name":40,"role":44,"phone":45,"phoneExt":10,"email":46},"CONTACT","+41 44 249 64 70","jana.pachlopnik@kispi.uzh.ch",[48],{"facility":49,"status":50,"city":51,"state":52,"zip":53,"country":54,"countryCode":55,"cosmosGeoPoint":56,"geoPoint":61,"contacts":62},"Division of Immunology","RECRUITING","Zurich","Canton of Zurich","8008","Switzerland","CH",{"type":57,"coordinates":58},"Point",[59,60],8.55,47.36667,{"lat":60,"lon":59},[63],{"name":64,"role":44,"phone":45,"phoneExt":10,"email":46},"Jana M Pachlopnik Schmid, Prof. Dr., MD PhD",{"type":66,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100265520","genetic-study-of-immunodeficiency-search-for-new-genetic-causes-for-primary-immunodeficiencies-100265520",false,"NCT02735824","Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies","GSI","Inclusion Criteria:\n\n* Patients: Pediatric patients (in\u002Foutpatient or referred) with suspected or confirmed Inborn Errors of Immunity.\n* Relatives: Healthy or affected biological relatives of enrolled patients.\n* Controls: Healthy volunteers with no history of chronic immunological, inflammatory, or infectious disease.\n* Consent: Ability to provide signed informed consent (or guardian consent).",true,"ALL",{"count":77,"type":78},500,"ESTIMATED","OBSERVATIONAL","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.",[82,83],"Immunologic Deficiency Syndromes","Primary Immune Deficiency (PID)","2026-05-11",{"date":86,"type":87},"2026-05-14","ACTUAL",{"date":89,"type":87},"2016-02",{"date":91,"type":78},"2027-12",{"name":5,"class":6},1]