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 ]

Whole exome sequencing is going to detect rare coding genetic variants in cases of Neutrophil-Mediated Inflammatory Skin Diseases. Statistical burden tests are applied to test for excess of rare variants in cases versus available controls of matching ancestry.


Original Primary Outcome: Enrichment of rare coding genetic variants [ Time Frame: baseline ]

Whole exome sequencing is going to detect rare coding genetic variants in cases of pyoderma gangrenosum. Statistical burden tests are applied to test for excess of rare variants in cases versus available controls of matching ancestry.


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