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NCT Number: NCT02735824

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

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.

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Key information

Conditions

Immunologic Deficiency Syndromes Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Immune System Diseases Primary Immune Deficiency (PID) Primary Immunodeficiency Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Division of Immunology

Zurich, Canton of Zurich, 8008, Switzerland

Location status: Recruiting

Location contact

Jana M Pachlopnik Schmid, Prof. Dr., MD PhD

CONTACT

[email protected]

+41 44 249 64 70

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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).

Treatment and study plan

skin biopsy

Procedure

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

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

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.

Primary outcomes

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

    Time frame: 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Jana M Pachlopnik Schmid, MD PhD

CONTACT

[email protected]

+41 44 249 64 70

Sponsors and collaborators

Lead sponsor

University Children's Hospital, Zurich

Other

Registry information

Acronym: GSI

Important dates

Study start
2016
Primary completion
2027
Study completion
2027
First posted
Apr 13, 2016
Registry last updated
May 14, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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