Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases

Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses


Lead Sponsor: University of Zurich

Source University of Zurich
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 Description

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

Overall Status Unknown status
Start Date 2014-01-01
Completion Date 2020-01-01
Primary Completion Date 2020-01-01
Study Type Observational
Primary Outcome
Measure Time Frame
Enrichment of rare coding genetic variants baseline
Enrollment 600

Intervention Type: Procedure

Intervention Name: Collection of biological samples


Sampling Method:

Probability Sample


Inclusion criteria: - History of NMID or active disease. - Informed consent. Exclusion criteria: - No consent to either part of the study.



Minimum Age:


Maximum Age:

120 Years

Healthy Volunteers:


Overall Official
Last Name Role Affiliation
Alexander Navarini, MD Principal Investigator University Hospital Zurich, Dept. of Dermatology
Overall Contact

Last Name: Alexander Navarini, MD

Email: [email protected]

Facility: Status: University Hospital Zurich, Dept. of Dermatology
Location Countries


Verification Date


Responsible Party

Type: Sponsor

Has Expanded Access No
Condition Browse
Study Design Info

Observational Model: Case-Only

Time Perspective: Cross-Sectional

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