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

NCT02735824 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 500

Last updated 2026-05-14

No results posted yet for this study

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.

Conditions

  • Immunologic Deficiency Syndromes
  • Primary Immune Deficiency (PID)

Interventions

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/aesthetic considerations and is therefore typically collected from the inner aspect of the upper arm.

PROCEDURE

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.

PROCEDURE

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.

Sponsors & Collaborators

  • University Children's Hospital, Zurich

    lead OTHER

Principal Investigators

  • Jana M Pachlopnik Schmid, MD PhD · University Children's Hospital, Zurich

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2016-02-29
Primary Completion
2027-07-31
Completion
2027-12-31

Countries

  • Switzerland

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02735824 on ClinicalTrials.gov