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

This study is currently recruiting participants.
Verified September 2016 by University of Zurich
Sponsor:
ClinicalTrials.gov Identifier:
NCT01952275
First Posted: September 27, 2013
Last Update Posted: September 27, 2016
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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
University of Zurich
  Purpose

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:

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
  Eligibility

Information from the National Library of Medicine

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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
Criteria

Inclusion criteria:

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

Exclusion criteria:

- No consent to either part of the study.

  Contacts and Locations
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 ClinicalTrials.gov identifier (NCT number): NCT01952275


Contacts
Contact: Alexander Navarini, MD alexander.navarini@usz.ch

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

Responsible Party: University of Zurich
ClinicalTrials.gov Identifier: NCT01952275     History of Changes
Other Study ID Numbers: USZ-DER-AAN-019
First Submitted: September 17, 2013
First Posted: September 27, 2013
Last Update Posted: September 27, 2016
Last Verified: September 2016

Additional relevant MeSH terms:
Syndrome
Psoriasis
Dermatitis
Lupus Erythematosus, Systemic
Urticaria
Vasculitis
Erythema
Epidermolysis Bullosa
Hidradenitis
Behcet Syndrome
Pemphigus
Pyoderma
Skin Diseases
Pyoderma Gangrenosum
Familial Mediterranean Fever
Dermatitis Herpetiformis
Skin Diseases, Vesiculobullous
Linear IgA Bullous Dermatosis
Acute Generalized Exanthematous Pustulosis
Sweet Syndrome
Keratosis
Epidermolysis Bullosa Acquisita
Vasculitis, Leukocytoclastic, Cutaneous
Disease
Pathologic Processes
Skin Diseases, Papulosquamous
Connective Tissue Diseases
Autoimmune Diseases
Immune System Diseases
Skin Diseases, Vascular