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

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:

Genetics Home Reference related topics: Behçet disease STING-associated vasculopathy with onset in infancy epidermolysis bullosa simplex epidermolysis bullosa with pyloric atresia familial Mediterranean fever junctional epidermolysis bullosa systemic lupus erythematosus

MedlinePlus related topics: Hives Skin Conditions Vasculitis

Genetic and Rare Diseases Information Center resources: Familial Mediterranean Fever Pemphigus Epidermolysis Bullosa Behcet's Disease Pyoderma Gangrenosum Pustulosis Palmaris Et Plantaris Pustular Psoriasis Linear IgA Disease Dermatitis Herpetiformis Erythema Elevatum Diutinum Epidermolysis Bullosa Acquisita Acute Febrile Neutrophilic Dermatosis Erosive Pustular Dermatosis of the Scalp Brucellosis Tylosis Panuveitis Uveal Diseases

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


Ages Eligible for Study:	Child, Adult, Senior
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


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:


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

ClinicalTrials.gov processed this record on September 23, 2016

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