Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
NEUTROSKIN
Case-Control Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
1 other identifier
observational
3,370
1 country
1
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Feb 2023
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
January 30, 2023
CompletedStudy Start
First participant enrolled
February 3, 2023
CompletedFirst Posted
Study publicly available on registry
February 17, 2023
CompletedPrimary Completion
Last participant's last visit for primary outcome
September 1, 2029
ExpectedStudy Completion
Last participant's last visit for all outcomes
September 1, 2029
August 22, 2023
August 1, 2023
6.6 years
January 30, 2023
August 21, 2023
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Number of protein-coding rare variants associated with forms of NMID
The primary endpoint consists in the determination of association between newly identified or previously reported rare gene variants and one or more forms of NMIDs. The discovery of such genetic variants will lead to the identification of defective molecular mechanisms involved in abnormal cutaneous immune reactions in these patients: - Statistically significant association between genetic data and NMID * Detection of protein-coding rare variants associated with forms of NMID * Identification of inflammasome activation in different stages of NMID
one time assessment at baseline
Secondary Outcomes (5)
Imaging Mass Cytometry
one time assessment at baseline
RNA expression
one time assessment at baseline
Immune cell count
one time assessment at baseline
Rate of mean fluorescence intensity of immune cells
one time assessment at baseline
Protein quantification (ELISA)
one time assessment at baseline
Study Arms (4)
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.
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.
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).
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.
Interventions
DNA extraction from blood or saliva samples for the identification of gene variants by next generation sequencing;
Eligibility Criteria
The study participants will largely be recruited by a.) prospectively collected biopsies of patients from biobanks or b.) analyzing, contacting, and including/excluding the existing patient population of our clinic (FFPE tissues). Healthy skin is obtained from patients undergoing plastic surgery at the USB. These patients will be informed and their informed consent obtained before surgery.
You may qualify if:
- written consent of the participating person
- diagnosis of a disease in the NMID form group or proband of the control group
You may not qualify if:
- Missing informed consent if samples collected after 2014
- no diagnosis of NMID
- Missing informed consent
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
University Hospital Basel, Clinic of Dermatology
Basel, 4031, Switzerland
Biospecimen
All samples originating from biobanks or Dermatology USB (fixed tissue) will be returned to origin after finishing of study.
Study Officials
- PRINCIPAL INVESTIGATOR
Alexander Navarini, Prof. Dr. med.
University Hospital Basel, Clinic of Dermatology
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
January 30, 2023
First Posted
February 17, 2023
Study Start
February 3, 2023
Primary Completion (Estimated)
September 1, 2029
Study Completion (Estimated)
September 1, 2029
Last Updated
August 22, 2023
Record last verified: 2023-08