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

Sponsor

University of Zurich (Other)

Overall Status

Unknown status

CT.gov ID

NCT01952275

Collaborator

(none)

600

Enrollment

Location

Duration (Months)

8.3

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
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	Procedure: Collection of biological samples

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 Design

Study Type:

Observational

Anticipated Enrollment :

600 participants

Observational Model:

Case-Only

Time Perspective:

Cross-Sectional

Official Title:

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

Study Start Date :

Jan 1, 2014

Anticipated Primary Completion Date :

Jan 1, 2020

Anticipated Study Completion Date :

Jan 1, 2020

Outcome Measures

Primary Outcome Measures

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.