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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.
 
ClinicalTrials.gov 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
Sponsor:
Information provided by (Responsible Party):
University of Zurich

Tracking Information
First Submitted Date September 17, 2013
First Posted Date September 27, 2013
Last Update Posted Date September 27, 2016
Study Start Date January 2014
Estimated Primary Completion Date January 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: September 30, 2013)
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.
Original Primary Outcome Measures
 (submitted: September 26, 2013)
Enrichment of rare coding genetic variants [ Time Frame: baseline ]
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.
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases
Official Title Assessment of the Enrichment of Rare Coding Genetic Variants in Patients Affected by Neutrophil-Mediated Inflammatory Dermatoses
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.

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
Study Type Observational
Study Design Observational Model: Case-Only
Time Perspective: Cross-Sectional
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Saliva or Blood Serum Histology FFPE
Sampling Method Probability Sample
Study Population Patients with a history of Neutrophil-Mediated Inflammatory Dermatoses (NMID) of any subtype
Condition
  • 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
Intervention Procedure: Collection of biological samples
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: September 26, 2013)
600
Original Estimated Enrollment Same as current
Estimated Study Completion Date January 2020
Estimated Primary Completion Date January 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion criteria:

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

Exclusion criteria:

- No consent to either part of the study.

Sex/Gender
Sexes Eligible for Study: All
Ages up to 120 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Switzerland
Removed Location Countries  
 
Administrative Information
NCT Number NCT01952275
Other Study ID Numbers USZ-DER-AAN-019
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party University of Zurich
Study Sponsor University of Zurich
Collaborators Not Provided
Investigators
Principal Investigator: Alexander Navarini, MD University Hospital Zurich, Dept. of Dermatology
PRS Account University of Zurich
Verification Date September 2016