Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
Case-Control Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
University Hospital, Basel, Switzerland
3,370 participants
Feb 3, 2023
OBSERVATIONAL
Conditions
Summary
This study is to identify rare, disease-causing mutations of several rare neutrophil dermatoses. To identify associations between NMID and variants in the genome next generation sequencing, mainly whole exome sequencing, will be used. In a second approach the expression level of already known inflammatory proteins in skin samples will be investigated.
Eligibility
Inclusion Criteria2
- written consent of the participating person
- diagnosis of a disease in the NMID form group or proband of the control group
Exclusion Criteria3
- Missing informed consent if samples collected after 2014
- no diagnosis of NMID
- Missing informed consent
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Interventions
DNA extraction from blood or saliva samples for the identification of gene variants by next generation sequencing;
RNA extraction from blood and skin samples for Nanostring analyses, quantitative RT-PCR or RNA sequencing.
Biobanked skin samples will be analyzed by immunostaining and imaging techniques to identify cell types in lesions and compare them to healthy skin.
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).
Locations(1)
View Full Details on ClinicalTrials.gov
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NCT05732987