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

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2016 by University of Zurich
Information provided by (Responsible Party):
University of Zurich Identifier:
First received: September 17, 2013
Last updated: September 26, 2016
Last verified: September 2016

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 Intervention
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

Study Type: Observational
Study Design: 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

Resource links provided by NLM:

Further study details as provided by University of Zurich:

Primary Outcome Measures:
  • Enrichment of rare coding genetic variants [ Time Frame: 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.

Biospecimen Retention:   Samples With DNA
Saliva or Blood Serum Histology FFPE

Estimated Enrollment: 600
Study Start Date: January 2014
Estimated Study Completion Date: January 2020
Estimated Primary Completion Date: January 2020 (Final data collection date for primary outcome measure)
Detailed Description:


  • 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

Ages Eligible for Study:   up to 120 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with a history of Neutrophil-Mediated Inflammatory Dermatoses (NMID) of any subtype

Inclusion criteria:

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

Exclusion criteria:

- No consent to either part of the study.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01952275

Contact: Alexander Navarini, MD

University Hospital Zurich, Dept. of Dermatology Recruiting
Zurich, ZH, Switzerland, 8091
Sponsors and Collaborators
University of Zurich
Principal Investigator: Alexander Navarini, MD University Hospital Zurich, Dept. of Dermatology
  More Information

Responsible Party: University of Zurich Identifier: NCT01952275     History of Changes
Other Study ID Numbers: USZ-DER-AAN-019
Study First Received: September 17, 2013
Last Updated: September 26, 2016

Additional relevant MeSH terms:
Lupus Erythematosus, Systemic
Skin Diseases
Behcet Syndrome
Epidermolysis Bullosa
Familial Mediterranean Fever
Pyoderma Gangrenosum
Linear IgA Bullous Dermatosis
Acute Generalized Exanthematous Pustulosis
Vasculitis, Leukocytoclastic, Cutaneous
Epidermolysis Bullosa Acquisita
Skin Diseases, Vesiculobullous
Sweet Syndrome
Dermatitis Herpetiformis
Pathologic Processes
Skin Diseases, Papulosquamous
Connective Tissue Diseases
Autoimmune Diseases
Immune System Diseases
Skin Diseases, Vascular processed this record on April 27, 2017