Clinical trial NCT02735824: Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Official title: Genetic Study of Immunodeficiency: Search for New Genetic Causes for Primary Immunodeficiencies
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Immunologic Deficiency Syndromes
Lead sponsor: University Children's Hospital, Zurich
Sponsor class: OTHER
Collaborators: name: University Children's Hospital Basel
name: University Hospital, Geneva
First posted: 2016-04-13
Enrollment: 500
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: population from which the groups or cohorts will be selected: in- and outpatient clinic of the Division of Immunology, Univ. Chlindren'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.

Eligibility criteria: Inclusion Criteria:

* Patient with suspected PID, healthy relative or healthy volunteer
* consent

Exclusion Criteria:

* none

Primary outcomes:
measure: Number of patients with suspected PID for whom a genetic cause has been identified
timeFrame: Through study completion, an average of 3 years
Secondary outcomes:
Other outcomes:
Locations:
city: Zurich
country: Switzerland
facility: Division of Immunology
state: ZH
city: Basel
country: Switzerland
facility: University of Basel Children's Hospital
Study officials:
affiliation: University Children's Hospital, Zurich
name: Jana M Pachlopnik Schmid, MD PhD
role: PRINCIPAL_INVESTIGATOR
References:
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