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

University of Zurich (UZH)

Status: Unknown

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

Treatments: Procedure: Collection of biological samples

Study type: Observational

Funder types: Other

Identifiers

NCT01952275

USZ-DER-AAN-019

Details and patient eligibility

About

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.

Full 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

Enrollment: 600 estimated patients

Sex: All

Ages: Under 120 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

• No consent to either part of the study.