Actively Recruiting
Case-Control Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
Led by University Hospital, Basel, Switzerland · Updated on 2023-08-22
3370
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating the genetic causes of rare neutrophil-mediated inflammatory skin diseases (NMID), which are severe conditions characterized by inflammation, pain, and skin damage that can affect quality of life and may be fatal. This study aims to identify rare mutations linked to these diseases using advanced genome sequencing techniques, mainly whole exome sequencing, and to examine the expression levels of known inflammatory proteins in skin samples. The research focuses on the genetic background of NMID to better understand their origins. The study involves analyzing biological samples from various groups. These include 600 samples from NMID patients stored in biobanks, about 50 archived skin samples collected before 2014 for RNA and protein analysis, 2,700 anonymized control genomes and 150 control samples for proteomics, and up to 20 fresh skin samples from healthy volunteers. Researchers use methods such as DNA and RNA extraction, immunostaining, imaging techniques, cell culture, and protein analysis with ELISA and Western Blot. Participants contribute biological material such as blood, saliva, and skin samples that will be analyzed using standardized laboratory methods including Nanostring, RNA sequencing, qRT-PCR, proteomics assays, immunohistochemistry, flow cytometry, and imaging mass cytometry. The main outcome measured is the number of rare protein-coding gene variants related to NMID. Secondary outcomes include detailed protein and immune cell assessments. The study does not involve treatment but focuses on collecting and analyzing data to improve understanding of these skin diseases.
CONDITIONS
Brief Title
Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Written consent of the participating person
- Diagnosis of a disease in the neutrophil-mediated inflammatory dermatoses (NMID) form group or being a proband of the control group
You will not qualify if you...
- Missing informed consent if samples were collected after 2014 for patients
- No diagnosis of NMID for patients
- Missing informed consent for healthy controls
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or sample submission)
Duration - One-time assessment at baseline
Participants provide biological samples such as blood, saliva, and skin for genetic and protein analysis. Samples are analyzed to identify gene variants and protein expression related to neutrophil-mediated inflammatory skin diseases.
1 visit for sample collection
Duration - Up to study completion in September 2029
Participants' samples and data are used for ongoing research to better understand the genetic architecture of neutrophil-mediated inflammatory skin diseases.
No additional visits required; data and samples are analyzed over time
Trial Site Locations
Total: 1 location
1
University Hospital Basel, Clinic of Dermatology
Basel, Switzerland, 4031
Actively Recruiting
Research Team
A
Alexander Navarini, Prof. Dr. med.
E
Emmanuel Contassot, Dr.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
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