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

Pyoderma Gangrenosum Clinical Trial

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

Clinical Trial 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.

Clinical Trial 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 Design

Observational Model: Case-Only, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

  • Acute Generalized Exanthematous Pustulosis
  • Amicrobial Pustulosis of the Folds
  • Behcet Syndrome
  • Behcet's Disease
  • Bowel-associated Dermatosis-arthritis Syndrome
  • Bullous Systemic Lupus Erythematosus
  • Dermatitis
  • Dermatitis Herpetiformis
  • Epidermolysis Bullosa
  • Epidermolysis Bullosa Acquisita
  • Erosive Pustular Dermatosis of the Scalp
  • Erythema
  • Erythema Elevatum Diutinum
  • Erythema Marginatum
  • Familial Mediterranean Fever
  • Hidradenitis
  • IgA Pemphigus
  • Infantile Acropustulosis
  • Inflammatory Epidermolysis Bullosa Aquisita
  • Keratoderma Blenorrhagicum
  • Keratosis
  • Linear IgA Bullous Dermatosis
  • Lupus Erythematosus, Systemic
  • Medium Vessel Vasculitis
  • Neutrophilic Dermatosis of the Dorsal Hands (Pustular Vasculitis)
  • Neutrophilic Eccrine Hidradenitis
  • Neutrophilic Urticaria
  • Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue
  • Pemphigus
  • Psoriasis
  • Pustular Psoriasis
  • Pyoderma
  • Pyoderma Gangrenosum
  • Rheumatoid Neutrophilic Dermatitis
  • Skin Diseases
  • Small Vessel Vasculitis Including Urticarial Vasculitis
  • Sneddon-Wilkinson Disease
  • Still's Disease
  • Sweet's Syndrome
  • Syndrome
  • Transient Neonatal Pustulosis
  • Unclassified Periodic Fever Syndromes / Autoinflammatory Syndromes
  • Urticaria
  • Vasculitis
Clinical Trial Details
NCT number NCT01952275
Study type Observational
Source University of Zurich
Contact Alexander Navarini, MD
Email alexander.navarini@usz.ch
Status Recruiting
Phase N/A
Start date January 2014
Completion date January 2020
View Details
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