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Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases

NCT05732987 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 3370

Last updated 2023-08-22

No results posted yet for this study

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.

Conditions

  • Neutrophil-mediated Inflammatory Dermatoses
  • Inflammatory Dermatoses

Interventions

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).

Sponsors & Collaborators

  • University Hospital, Basel, Switzerland

    lead OTHER

Principal Investigators

  • Alexander Navarini, Prof. Dr. med. · University Hospital Basel, Clinic of Dermatology

Eligibility

Min Age
18 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2023-02-03
Primary Completion
2029-09-30
Completion
2029-09-30

Countries

  • Switzerland

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05732987 on ClinicalTrials.gov