NCT05732987

Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases

Case-Control Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 3,370 (estimated)
• Sponsor: University Hospital, Basel, Switzerland · Academic / Other
• Sex: All
• Age: 18 Years – 100 Years
• Healthy volunteers: Accepted

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.

Detailed description

The origin of rare severe inflammatory skin diseases in dermatology is insufficiently known. They have in common the presence and activation of phagocytes, affect the quality of life through pain and inflammation and disfiguration, and can even be fatal. This study is intended to build on the findings that several of these neutrophil-mediated inflammatory dermatoses (NMID) have a genetic background and to identify rare, disease-causing mutations of several rare neutrophil dermatoses. This non-clinical case-control study is a research project with biological material and health-related data. 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. The data are obtained and verified using standardized methods as e.g. Nanostring, RNA sequencing and qRT-polymerase chain reaction (PCR), proteomics assays and immunohistochemistry as well as flow cytometry and imaging mass cytometry, ELISA, and Western Blot.

Conditions

• Neutrophil-mediated Inflammatory Dermatoses
• Inflammatory Dermatoses

Interventions

Type	Name	Description
OTHER	Analysis of samples	DNA extraction from blood or saliva samples for the identification of gene variants by next generation sequencing;
OTHER	Analysis of samples	RNA extraction from blood and skin samples for Nanostring analyses, quantitative RT-PCR or RNA sequencing.
OTHER	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.
OTHER	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).

Timeline

• Start date: 2023-02-03
• Primary completion: 2029-09-01
• Completion: 2029-09-01
• First posted: 2023-02-17
• Last updated: 2023-08-22

Locations

1 site across 1 country: Switzerland