Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population - Full Text View

Sponsor:	Northwestern University
Collaborator:	ViraCor Laboratories
Information provided by:	Northwestern University
ClinicalTrials.gov Identifier:	NCT01016106

Purpose

The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris. Atopic dermatitis, or eczema, is a common, chronic, relapsing and remitting problem in many children and affects 10-20% of the pediatric population. Itch is a predominant feature of this disease and is quite disruptive to daily activities of life. In addition to itch, it is characterized by markedly dry skin, small red bumps that may have fluid. Ichthyosis vulgaris is characterized by extremely dry, scaly skin with a fine white scale and increased amounts of lines noted on the palms. Filaggrin is a protein that is essential for the skin to function properly as a barrier and found to be mutated in some European patients with ichthyosis vulgaris and atopic dermatitis. This association has not been looked at in the African American population. Genomic DNA (gDNA) will be purified from buccal swabs using commercially available kits and analyzed.

Condition	Intervention
Atopic Dermatitis Ichthyosis Vulgaris	Genetic: Buccal Swab

Study Type:	Interventional
Study Design:	Allocation: Non-Randomized Intervention Model: Single Group Assignment Masking: Double Blind (Subject, Outcomes Assessor) Primary Purpose: Diagnostic
Official Title:	Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population

Resource links provided by NLM:

Genetics Home Reference related topics: lamellar ichthyosis nonbullous congenital ichthyosiform erythroderma Help Me Understand Genetics

MedlinePlus related topics: Eczema

U.S. FDA Resources

Further study details as provided by Northwestern University:

Primary Outcome Measures:

Genetic Mutations [ Time Frame: 1 month ] [ Designated as safety issue: No ]
To discover new genetic mutations or identify those already known (i.e. six null mutations: 1249insG, R501X, 2282delta 4, E2422X, R2447X, and S2554X).

Secondary Outcome Measures:

Variables at SNP sites [ Time Frame: 1 month ] [ Designated as safety issue: No ]
To identify variability at several SNP sites.

Estimated Enrollment:	100
Study Start Date:	June 2010
Estimated Study Completion Date:	June 2011
Estimated Primary Completion Date:	June 2011 (Final data collection date for primary outcome measure)

Arms	Assigned Interventions
Active Comparator: AA pts AD and IV African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris	Genetic: Buccal Swab During a single visit, a subject data collection form will be completed and DNA will be extracted from samples (buccal swabs) and then analyzed at IBT laboratories in Lenexa, Kansas.
Active Comparator: AA patients (controls) African American patients with no personal or family history of ichthyosis vulgaris or atopy	Genetic: Buccal Swab During a single visit, a subject data collection form will be completed and DNA will be extracted from samples (buccal swabs) and then analyzed at IBT laboratories in Lenexa, Kansas.

Eligibility

Ages Eligible for Study:	6 Months and older
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes

Criteria

Inclusion Criteria:

Age greater than 6 months
Affected subjects: Must be African American and have a diagnosis of both atopic dermatitis or eczema as well as ichthyosis vulgaris
Control subjects: Must be healthy African American subjects
Must be willing to not apply emollients for 24 hours prior to visit.

Exclusion Criteria:

Systemic illness
Control subjects: Must not have a family history of atopy (including asthma, seasonal allergies or hay fever or allergic rhinitis, or eczema or atopic dermatitis)
Control subjects: Must never have been given a diagnosis of eczema or atopic dermatitis
Control subjects: Must not have excessively dry skin
Must not be of Hispanic ethnicity

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT01016106

Locations

United States, Illinois
Children's Memorial Hospital
Chicago, Illinois, United States, 60614
University of Chicago
Chicago, Illinois, United States

Sponsors and Collaborators

Northwestern University

ViraCor Laboratories

Investigators

Principal Investigator:

Amy S Paller, MD

Northwestern University

More Information

No publications provided

Responsible Party:	Amy S. Paller, MD, Northwestern University
ClinicalTrials.gov Identifier:	NCT01016106 History of Changes
Other Study ID Numbers:	CMH 2010-14049
Study First Received:	November 17, 2009
Last Updated:	June 22, 2011
Health Authority:	United States: Institutional Review Board

Keywords provided by Northwestern University:

eczema
atopic dermatitis
dry skin
ichthyosis vulgaris

Additional relevant MeSH terms:

Dermatitis
Dermatitis, Atopic
Ichthyosis
Ichthyosis, Lamellar
Ichthyosis Vulgaris
Skin Diseases
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases, Eczematous

Hypersensitivity, Immediate
Hypersensitivity
Immune System Diseases
Skin Abnormalities
Congenital Abnormalities
Infant, Newborn, Diseases
Keratosis
Ichthyosiform Erythroderma, Congenital

ClinicalTrials.gov processed this record on February 09, 2012