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

NCT01952275 | Unknown

• 1 other identifier: USZ-DER-AAN-019
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

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.

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

Outcome Measures

Primary Outcomes (1)

• 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

Interventions

Collection of biological samples PROCEDURE

Eligibility Criteria

• Age: Up to 120 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with a history of Neutrophil-Mediated Inflammatory Dermatoses (NMID) of any subtype

You may qualify if:

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

You may not qualify if:

• \- No consent to either part of the study.

Sponsors & Collaborators

• University of Zurich: lead

Study Sites (1)

University Hospital Zurich, Dept. of Dermatology

Zurich, Canton of Zurich, 8091, Switzerland

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Saliva or Blood Serum Histology FFPE

MeSH Terms

Conditions

Pyoderma Gangrenosum; Sweet Syndrome; Behcet Syndrome; Acute Generalized Exanthematous Pustulosis; Keratosis; Skin Diseases, Vesiculobullous; Hidradenitis; Arthritis, Juvenile; Dermatitis Herpetiformis; Linear IgA Bullous Dermatosis; Erythema elevatum diutinum

Condition Hierarchy (Ancestors)

Pyoderma; Skin Diseases; Skin and Connective Tissue Diseases; Skin Diseases, Vascular; Skin Ulcer; Erythema; Mouth Diseases; Stomatognathic Diseases; Uveitis, Anterior; Panuveitis; Uveitis; Uveal Diseases; Eye Diseases; Vasculitis; Vascular Diseases; Cardiovascular Diseases; Hereditary Autoinflammatory Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Drug Eruptions; Dermatitis; Hypersensitivity, Delayed; Hypersensitivity; Immune System Diseases; Drug Hypersensitivity; Drug-Related Side Effects and Adverse Reactions; Chemically-Induced Disorders; Sweat Gland Diseases; Arthritis; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases; Connective Tissue Diseases; Autoimmune Diseases

Study Officials

• Alexander Navarini, MD

  University Hospital Zurich, Dept. of Dermatology

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Alexander Navarini, MD

CONTACT

alexander.navarini@usz.ch

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 17, 2013
• First Posted: September 27, 2013
• Study Start: January 1, 2014
• Primary Completion: January 1, 2020
• Study Completion: January 1, 2020
• Last Updated: September 27, 2016

Record last verified: 2016-09

Locations

CH (1)