Observational Study of the Genetic Architecture of Neutro... | NCT01952275

Studies
Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases

NCT01952275

Sponsor

University of Zurich

Status

Unknown status

Last Update Posted

Sep 27, 2016Estimated

Enrollment

600Estimated

Phase

Not provided

Conditions

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

Interventions

Collection of biological samples

Countries

Switzerland

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Status Module

Record Verification Date

Sep 2016

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 2014

Primary Completion Date

Jan 2020Estimated

Completion Date

Jan 2020Estimated

First Submitted Date

Sep 17, 2013

First Submission Date that Met QC Criteria

Sep 26, 2013

First Posted Date

Sep 27, 2013Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Sep 26, 2016

Last Update Posted Date

Sep 27, 2016Estimated

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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

Conditions Module

Conditions

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

Keywords

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

600Estimated

Name	Type	Description	Arm Group Labels	Other Names
Collection of biological samples	Procedure

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Enrichment of rare coding genetic variants	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.	baseline

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion criteria:

History of NMID or active disease.
Informed consent.

Exclusion criteria:

- No consent to either part of the study.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

120 Years

Standard Ages

ChildAdultOlder Adult

Study Population

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

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Alexander Navarini, MD	Contact			alexander.navarini@usz.ch

Overall Officials

Name	Affiliation	Role
Alexander Navarini, MD	University Hospital Zurich, Dept. of Dermatology	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
University Hospital Zurich, Dept. of Dermatology	Recruiting	Zurich	Canton of Zurich	8091	Switzerland

ID	Term
D017511	Pyoderma Gangrenosum
D016463	Sweet Syndrome
D001528	Behcet Syndrome
D056150	Acute Generalized Exanthematous Pustulosis
D007642	Keratosis
D012872	Skin Diseases, Vesiculobullous
D016575	Hidradenitis
D001171	Arthritis, Juvenile
D003874	Dermatitis Herpetiformis
D062027	Linear IgA Bullous Dermatosis
C535509	Erythema elevatum diutinum

Ancestor Terms

ID	Term
D011711	Pyoderma
D012871	Skin Diseases
D017437	Skin and Connective Tissue Diseases
D017445	Skin Diseases, Vascular
D012883	Skin Ulcer
D004890	Erythema
D009059	Mouth Diseases
D009057	Stomatognathic Diseases
D014606	Uveitis, Anterior
D015864	Panuveitis
D014605	Uveitis
D014603	Uveal Diseases
D005128	Eye Diseases
D014657	Vasculitis
D014652	Vascular Diseases
D002318	Cardiovascular Diseases
D056660	Hereditary Autoinflammatory Diseases
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D012873	Skin Diseases, Genetic
D003875	Drug Eruptions
D003872	Dermatitis
D006968	Hypersensitivity, Delayed
D006967	Hypersensitivity
D007154	Immune System Diseases
D004342	Drug Hypersensitivity
D064420	Drug-Related Side Effects and Adverse Reactions
D064419	Chemically-Induced Disorders
D013543	Sweat Gland Diseases
D001168	Arthritis
D007592	Joint Diseases
D009140	Musculoskeletal Diseases
D012216	Rheumatic Diseases
D003240	Connective Tissue Diseases
D001327	Autoimmune Diseases