Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
1 other identifier
interventional
35
1 country
2
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P25-P50 for not_applicable
Started Jun 2010
2 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
November 17, 2009
CompletedFirst Posted
Study publicly available on registry
November 18, 2009
CompletedStudy Start
First participant enrolled
June 1, 2010
CompletedPrimary Completion
Last participant's last visit for primary outcome
October 1, 2010
CompletedStudy Completion
Last participant's last visit for all outcomes
September 1, 2011
CompletedResults Posted
Study results publicly available
June 20, 2013
CompletedMay 1, 2015
April 1, 2015
4 months
November 17, 2009
April 30, 2013
April 10, 2015
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Heterozygous for Filaggrin (FLG) Null Mutations
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.
1 month
Study Arms (2)
AA pts AD and IV
ACTIVE COMPARATORAfrican American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris. 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
AA patients (controls)
ACTIVE COMPARATORAfrican American patients with no personal or family history of ichthyosis vulgaris or atopy. 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
Interventions
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 Criteria
You may qualify if:
- 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.
You may not qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Northwestern Universitylead
- ViraCor Laboratoriescollaborator
Study Sites (2)
Ann & Robert H Lurie CHildren's Hospital of Chicago
Chicago, Illinois, 60611, United States
University of Chicago
Chicago, Illinois, 60637, United States
Related Publications (1)
Polcari I, Becker L, Stein SL, Smith MS, Paller AS. Filaggrin gene mutations in African Americans with both ichthyosis vulgaris and atopic dermatitis. Pediatr Dermatol. 2014 Jul-Aug;31(4):489-92. doi: 10.1111/pde.12355. Epub 2014 Jun 12.
PMID: 24920311RESULT
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Results Point of Contact
- Title
- Mandy Browning
- Organization
- Northwestern University
Study Officials
- PRINCIPAL INVESTIGATOR
Amy S Paller, MD
Northwestern University
Publication Agreements
- PI is Sponsor Employee
- Yes
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NON RANDOMIZED
- Masking
- DOUBLE
- Who Masked
- PARTICIPANT, OUTCOMES ASSESSOR
- Purpose
- DIAGNOSTIC
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Professor and Chair of Department of Dermatology, Professor of Pediatrics
Study Record Dates
First Submitted
November 17, 2009
First Posted
November 18, 2009
Study Start
June 1, 2010
Primary Completion
October 1, 2010
Study Completion
September 1, 2011
Last Updated
May 1, 2015
Results First Posted
June 20, 2013
Record last verified: 2015-04