Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
NCT ID: NCT05732987
Last Updated: 2023-08-22
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
3370 participants
OBSERVATIONAL
2023-02-03
2029-09-30
Brief Summary
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Detailed Description
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Conditions
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Study Design
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CASE_CONTROL
PROSPECTIVE
Study Groups
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Biobank- samples from NMID patients
600 samples from NMID patients from the Biobank Dermatology Unispital Basel (USB) (Biobank USB) and from the biobank of the Dermatology Department of the University Hospital Zürich (USZ) (Biobank USZ) will be included.
Analysis of samples
DNA extraction from blood or saliva samples for the identification of gene variants by next generation sequencing;
Analysis of samples
RNA extraction from blood and skin samples for Nanostring analyses, quantitative RT-PCR or RNA sequencing.
Analysis of samples
Biobanked skin samples will be analyzed by immunostaining and imaging techniques to identify cell types in lesions and compare them to healthy skin.
Analysis of samples
Cells isolated from biobanked blood and skin samples will be cultured in vitro and proteins will be analyzed by ELISA (secreted proteins) and western blot (cell proteins).
Formalin-fixed and paraffin-embedded (FFPE) samples
About 50 of formalin-fixed and paraffin-embedded (FFPE) samples from the Dermatology USB collected before 2014 for RNA and protein expression analyses will be reused. The patients in questions are informed about the study and the coded use of their samples.
Analysis of samples
DNA extraction from blood or saliva samples for the identification of gene variants by next generation sequencing;
Analysis of samples
RNA extraction from blood and skin samples for Nanostring analyses, quantitative RT-PCR or RNA sequencing.
Analysis of samples
Biobanked skin samples will be analyzed by immunostaining and imaging techniques to identify cell types in lesions and compare them to healthy skin.
Analysis of samples
Cells isolated from biobanked blood and skin samples will be cultured in vitro and proteins will be analyzed by ELISA (secreted proteins) and western blot (cell proteins).
Biobank- samples from controls
2'700 anonymized control genomes as well as 150 anonymized control samples for the proteomics approach can be used as control samples from the biobank of the Dermatology Department of the University Hospital Zürich (Biobank Dermatology USZ).
Analysis of samples
DNA extraction from blood or saliva samples for the identification of gene variants by next generation sequencing;
Analysis of samples
RNA extraction from blood and skin samples for Nanostring analyses, quantitative RT-PCR or RNA sequencing.
Analysis of samples
Biobanked skin samples will be analyzed by immunostaining and imaging techniques to identify cell types in lesions and compare them to healthy skin.
Analysis of samples
Cells isolated from biobanked blood and skin samples will be cultured in vitro and proteins will be analyzed by ELISA (secreted proteins) and western blot (cell proteins).
Fresh skin samples from healthy donors
A maximum of 20 fresh skin samples from healthy donors are required per skin location. They will be requested from healthy volunteers after information about the study and receiving the informed consent.
Analysis of samples
DNA extraction from blood or saliva samples for the identification of gene variants by next generation sequencing;
Analysis of samples
RNA extraction from blood and skin samples for Nanostring analyses, quantitative RT-PCR or RNA sequencing.
Analysis of samples
Biobanked skin samples will be analyzed by immunostaining and imaging techniques to identify cell types in lesions and compare them to healthy skin.
Analysis of samples
Cells isolated from biobanked blood and skin samples will be cultured in vitro and proteins will be analyzed by ELISA (secreted proteins) and western blot (cell proteins).
Interventions
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Analysis of samples
DNA extraction from blood or saliva samples for the identification of gene variants by next generation sequencing;
Analysis of samples
RNA extraction from blood and skin samples for Nanostring analyses, quantitative RT-PCR or RNA sequencing.
Analysis of samples
Biobanked skin samples will be analyzed by immunostaining and imaging techniques to identify cell types in lesions and compare them to healthy skin.
Analysis of samples
Cells isolated from biobanked blood and skin samples will be cultured in vitro and proteins will be analyzed by ELISA (secreted proteins) and western blot (cell proteins).
Eligibility Criteria
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Inclusion Criteria
* diagnosis of a disease in the NMID form group or proband of the control group
Exclusion Criteria
* no diagnosis of NMID
* Missing informed consent
18 Years
100 Years
ALL
Yes
Sponsors
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University Hospital, Basel, Switzerland
OTHER
Responsible Party
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Principal Investigators
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Alexander Navarini, Prof. Dr. med.
Role: PRINCIPAL_INVESTIGATOR
University Hospital Basel, Clinic of Dermatology
Locations
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University Hospital Basel, Clinic of Dermatology
Basel, , Switzerland
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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2020-02645; sp19Navarini3
Identifier Type: -
Identifier Source: org_study_id
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