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

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: hystrix-like ichthyosis with deafness nonbullous congenital ichthyosiform erythroderma

Genetic and Rare Diseases Information Center resources: Dominant Ichthyosis Vulgaris Ichthyosis Vulgaris Tylosis

U.S. FDA Resources

Further study details as provided by Northwestern University:

Primary Outcome Measures:

Heterozygous for Filaggrin (FLG) Null Mutations [ Time Frame: 1 month ] [ Designated as safety issue: No ]
Buccal swab samples were obtained from each subject. Deoxyribonucleic acid (DNA) was purified from buccal swabs (IsoHelix Swabs, BocaScientific, Boca Raton, FL) and quantified by ultraviolet spectrophotometry. Purified genomic DNA and controls were amplified by polymerase chain reaction (PCR) from three different regions of FLG exon 3 with three primer sets. PCR products were analyzed by electrophoresis, purified (Qiaquick, Qiagen, Valencia, CA), and subjected to duplicate cycle sequencing reactions using ABI BigDye v3.1 reagents (Applied Biosystems, Carlsbad, CA). Labeled sequencing products were purified for capillary electrophoresis (ABI3730 or ABI3130 sequencer with POP7 polymer), and sequence results were examined using ABI SeqScape software. All nucleotide changes were noted, including 30 single nucleotide polymorphism (SNPs) in the population tested, the most common of which were coding changes at T454A, H2507Q, and G2545R, and silent change at nucleotide t2508c.


Enrollment:	35
Study Start Date:	June 2010
Study Completion Date:	September 2011
Primary Completion Date:	October 2010 (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

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: 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 Paller, Professor and Chair of Department of Dermatology, Professor of Pediatrics, Northwestern University
ClinicalTrials.gov Identifier:	NCT01016106 History of Changes
Other Study ID Numbers:	CMH 2010-14049
Study First Received:	November 17, 2009
Results First Received:	April 30, 2013
Last Updated:	April 30, 2013
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 Vulgaris Congenital Abnormalities Genetic Diseases, Inborn Hypersensitivity Hypersensitivity, Immediate	Immune System Diseases Infant, Newborn, Diseases Keratosis Skin Abnormalities Skin Diseases Skin Diseases, Eczematous Skin Diseases, Genetic

ClinicalTrials.gov processed this record on February 27, 2015