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

September 26, 2016 updated by: University of Zurich

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

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.

Study Overview

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

Study Type

Observational

Enrollment (Anticipated)

600

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

    • ZH
      • Zurich, ZH, Switzerland, 8091
        • Recruiting
        • University Hospital Zurich, Dept. of Dermatology

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 118 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Patients with a history of Neutrophil-Mediated Inflammatory Dermatoses (NMID) of any subtype

Description

Inclusion criteria:

  • History of NMID or active disease.
  • Informed consent.

Exclusion criteria:

- No consent to either part of the study.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Cross-Sectional

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Alexander Navarini, MD, University Hospital Zurich, Dept. of Dermatology

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

January 1, 2014

Primary Completion (Anticipated)

January 1, 2020

Study Completion (Anticipated)

January 1, 2020

Study Registration Dates

First Submitted

September 17, 2013

First Submitted That Met QC Criteria

September 26, 2013

First Posted (Estimate)

September 27, 2013

Study Record Updates

Last Update Posted (Estimate)

September 27, 2016

Last Update Submitted That Met QC Criteria

September 26, 2016

Last Verified

September 1, 2016

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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