Trials / Recruiting
RecruitingNCT02735824
Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
- Status
- Recruiting
- Phase
- —
- Study type
- Observational
- Enrollment
- 500 (estimated)
- Sponsor
- University Children's Hospital, Zurich · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Accepted
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.
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| PROCEDURE | blood sampling and skin biopsy | 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. |
| PROCEDURE | blood sampling or mouth swap | specimen will be used for genetic testing, results compared to patients |
| PROCEDURE | blood sampling | 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. |
Timeline
- Start date
- 2016-02-01
- Primary completion
- 2027-07-01
- Completion
- 2027-12-01
- First posted
- 2016-04-13
- Last updated
- 2024-01-18
Locations
2 sites across 1 country: Switzerland
Source: ClinicalTrials.gov record NCT02735824. Inclusion in this directory is not an endorsement.