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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01952275
Recruitment Status : Unknown
Verified September 2016 by University of Zurich.
Recruitment status was:  Recruiting
First Posted : September 27, 2013
Last Update Posted : September 27, 2016
Information provided by (Responsible Party):
University of Zurich

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
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:


  • 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

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Study Type : Observational
Estimated 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 : January 2014
Estimated Primary Completion Date : January 2020
Estimated Study Completion Date : January 2020

Primary Outcome Measures :
  1. 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

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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Ages Eligible for Study:   up to 120 Years   (Child, Adult, Older Adult)
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01952275

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Contact: Alexander Navarini, MD

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University Hospital Zurich, Dept. of Dermatology Recruiting
Zurich, ZH, Switzerland, 8091
Sponsors and Collaborators
University of Zurich
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Principal Investigator: Alexander Navarini, MD University Hospital Zurich, Dept. of Dermatology
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Responsible Party: University of Zurich Identifier: NCT01952275    
Other Study ID Numbers: USZ-DER-AAN-019
First Posted: September 27, 2013    Key Record Dates
Last Update Posted: September 27, 2016
Last Verified: September 2016
Additional relevant MeSH terms:
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Behcet Syndrome
Epidermolysis Bullosa
Epidermolysis Bullosa Acquisita
Lupus Erythematosus, Systemic
Skin Diseases
Pyoderma Gangrenosum
Skin Diseases, Vesiculobullous
Dermatitis Herpetiformis
Acute Generalized Exanthematous Pustulosis
Linear IgA Bullous Dermatosis
Sweet Syndrome
Pathologic Processes
Connective Tissue Diseases
Autoimmune Diseases
Immune System Diseases
Skin Diseases, Vascular
Hypersensitivity, Immediate
Vascular Diseases
Cardiovascular Diseases
Sweat Gland Diseases