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

This study is currently recruiting participants.
Verified January 2014 by University of Zurich
Sponsor:
Information provided by (Responsible Party):
University of Zurich
ClinicalTrials.gov Identifier:
NCT01952275
First received: September 17, 2013
Last updated: January 28, 2014
Last verified: January 2014

September 17, 2013
January 28, 2014
January 2014
January 2020   (final data collection date for primary outcome measure)
Enrichment of rare coding genetic variants [ Time Frame: baseline ] [ Designated as safety issue: No ]
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.
Enrichment of rare coding genetic variants [ Time Frame: baseline ] [ Designated as safety issue: No ]
Whole exome sequencing is going to detect rare coding genetic variants in cases of pyoderma gangrenosum. Statistical burden tests are applied to test for excess of rare variants in cases versus available controls of matching ancestry.
Complete list of historical versions of study NCT01952275 on ClinicalTrials.gov Archive Site
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Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses

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.

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
Observational
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Not Provided
Retention:   Samples With DNA
Description:

Saliva or Blood Serum Histology FFPE

Probability Sample

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

  • 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
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
600
January 2020
January 2020   (final data collection date for primary outcome measure)

Inclusion criteria:

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

Exclusion criteria:

- No consent to either part of the study.

Both
Not Provided
No
Contact: Alexander Navarini, MD alexander.navarini@usz.ch
Switzerland
 
NCT01952275
USZ-DER-AAN-019
No
University of Zurich
University of Zurich
Not Provided
Principal Investigator: Alexander Navarini, MD University Hospital Zurich, Dept. of Dermatology
University of Zurich
January 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP