NCT01952275

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 600 (estimated)
• Sponsor: University of Zurich · Academic / Other
• Sex: All
• Age: 120 Years
• Healthy volunteers: Not accepted

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

Conditions

• Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue
• Pyoderma Gangrenosum
• Erosive Pustular Dermatosis of the Scalp
• Sweet's Syndrome
• Behcet's Disease
• Bowel-associated Dermatosis-arthritis Syndrome
• Pustular Psoriasis
• Acute Generalized Exanthematous Pustulosis
• Keratoderma Blenorrhagicum
• Sneddon-Wilkinson Disease
• IgA Pemphigus
• Amicrobial Pustulosis of the Folds
• Infantile Acropustulosis
• Transient Neonatal Pustulosis
• Neutrophilic Eccrine Hidradenitis
• Rheumatoid Neutrophilic Dermatitis
• Neutrophilic Urticaria
• Still's Disease
• Erythema Marginatum
• Unclassified Periodic Fever Syndromes / Autoinflammatory Syndromes
• Dermatitis Herpetiformis
• Linear IgA Bullous Dermatosis
• Bullous Systemic Lupus Erythematosus
• Inflammatory Epidermolysis Bullosa Aquisita
• Neutrophilic Dermatosis of the Dorsal Hands (Pustular Vasculitis)
• Small Vessel Vasculitis Including Urticarial Vasculitis
• Erythema Elevatum Diutinum
• Medium Vessel Vasculitis

Interventions

Type	Name	Description
PROCEDURE	Collection of biological samples

Timeline

• Start date: 2014-01-01
• Primary completion: 2020-01-01
• Completion: 2020-01-01
• First posted: 2013-09-27
• Last updated: 2016-09-27

Locations

1 site across 1 country: Switzerland