Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population

This study has been completed.
Sponsor:
Collaborator:
ViraCor Laboratories
Information provided by (Responsible Party):
Amy Paller, Northwestern University
ClinicalTrials.gov Identifier:
NCT01016106
First received: November 17, 2009
Last updated: April 30, 2013
Last verified: April 2013
  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:


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
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

ClinicalTrials.gov processed this record on October 02, 2014