Clinical Trial: Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses
Brief Summary:
This study investigates the genetic architecture of Neutrophil-Mediated Inflammatory Skin Diseases. After collecting informed consent, all patients' clinical phenotype is graded at inclusion with a detailed case report form and a discovery cohort formed based on the certainty of diagnosis. The DNA of patients in the discovery cohort is analyzed by whole exome sequencing which identifies all protein-coding genetic variants. Subsequently, statistical burden tests are going to identify enrichment of rare coding genetic variants in patients affected by Neutrophil-Mediated Inflammatory Skin Diseases.
The ultimate goal is to reveal the responsible gene(s) that may then be targets for clinical intervention.
Detailed Summary:
Timeframe:
- Collection of DNA for discovery cohort until 05/2016
- Data analysis until 12/2014 for pyoderma gangrenosum, until 12/2016 for other NMID
- Report and data presentation early 2015 for PG, 2017 for other NMID
Sponsor: University of Zurich
Current Primary Outcome: Enrichment of rare coding genetic variants [ Time Frame: baseline ]
Original Primary Outcome: Enrichment of rare coding genetic variants [ Time Frame: baseline ]
Current Secondary Outcome:
Original Secondary Outcome:
Information By: University of Zurich
Dates:
Date Received: September 17, 2013
Date Started: January 2014
Date Completion: January 2020
Last Updated: September 26, 2016
Last Verified: September 2016