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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 June 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: June 11, 2014
Last verified: June 2014
History of Changes
  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:

U.S. FDA Resources

Further study details as provided by University of Zurich:

Primary Outcome Measures:
  • 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.


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
Genders Eligible for Study:   Both
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
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 ClinicalTrials.gov identifier: 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

No publications provided

Responsible Party: University of Zurich
ClinicalTrials.gov Identifier: NCT01952275     History of Changes
Other Study ID Numbers: USZ-DER-AAN-019
Study First Received: September 17, 2013
Last Updated: June 11, 2014
Health Authority: Switzerland: Swissmedic

Additional relevant MeSH terms:
Acute Generalized Exanthematous Pustulosis
Dermatitis Herpetiformis
Epidermolysis Bullosa
Hidradenitis
Linear IgA Bullous Dermatosis
Lupus Erythematosus, Systemic
Pyoderma Gangrenosum
Skin Diseases
Vasculitis
Autoimmune Diseases
Cardiovascular Diseases
Chemically-Induced Disorders
Congenital Abnormalities
Connective Tissue Diseases
Dermatitis
 Drug Eruptions
Drug Hypersensitivity
Drug-Related Side Effects and Adverse Reactions
Genetic Diseases, Inborn
Hypersensitivity
Immune System Diseases
Pyoderma
Skin Abnormalities
Skin Diseases, Genetic
Skin Diseases, Vascular
Skin Diseases, Vesiculobullous
Skin Ulcer
Sweat Gland Diseases
Vascular Diseases

ClinicalTrials.gov processed this record on March 03, 2015