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

Pyoderma Gangrenosum Clinical Trial

— NEUTROGENE  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01952275
• Other study ID #: USZ-DER-AAN-019
• Status: Recruiting
• Phase: N/A
• First received: September 17, 2013
• Last updated: September 26, 2016
• Start date: January 2014
• Est. completion date: January 2020

Study information

• Verified date: September 2016
• Source: University of Zurich
• Contact: Alexander Navarini, MD
• Email: alexander.navarini[@]usz.ch
• Is FDA regulated: No
• Health authority: Switzerland: Swissmedic
• Study type: Observational

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.

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

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 600
• Est. completion date: January 2020
• Est. primary completion date: January 2020
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A to 120 Years

Eligibility

Inclusion criteria:

• History of NMID or active disease.

• Informed consent.

Exclusion criteria:

• No consent to either part of the study.

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

Intervention

Procedure:
• Collection of biological samples

Locations

Country	Name	City	State
Switzerland	University Hospital Zurich, Dept. of Dermatology	Zurich	ZH

Sponsors (1)

Lead Sponsor	Collaborator
University of Zurich

Country where clinical trial is conducted

Switzerland, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Enrichment of rare coding genetic variants	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	No