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

• Conditions: Erosive Pustular Dermatosis of the Scalp; Sweet's Syndrome; Bowel-associated Dermatosis-arthritis Syndrome; Pustular Psoriasis; Amicrobial Pustulosis of the Folds; Still's Disease; Unclassified Periodic Fever Syndromes / Autoinflammatory Syndromes; Inflammatory Epidermolysis Bullosa Aquisita; Sneddon-Wilkinson Disease; Erythema Marginatum

• Registration Number: NCT01952275
• Lead Sponsor: 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

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study First Submitted: 2013-09-17
• Study First Submitted QC: 2013-09-26
• Study First Posted: 2013-09-27
• Study Start: 2014-01
• Status Verified: 2016-09
• Last Update Submitted: 2016-09-26
• Last Update Posted: 2016-09-27
• Primary Completion: 2020-01
• Study Completion: 2020-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 600

Inclusion Criteria

Not provided

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Enrichment of rare coding genetic variants	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.

Trial Locations

Locations (1)

University Hospital Zurich, Dept. of Dermatology; 🇨🇭 Zurich, ZH, Switzerland