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



Status:Archived
Conditions:Psoriasis, Infectious Disease, Dermatology
Therapuetic Areas:Dermatology / Plastic Surgery, Immunology / Infectious Diseases
Healthy:No
Age Range:Any
Updated:7/1/2011
Start Date:June 2010
End Date:June 2011

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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.



We found this trial at
2
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5801 South Ellis Avenue
Chicago, Illinois 60637
 773.702.1234
University of Chicago One of the world's premier academic and research institutions, the University of...
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Chicago, IL
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9300 Valley Children's Pl
Madera, California 93720
(559) 353-3000
Children's Hospital Central California The Children's Hospital Central California is a not-for-profit, state-of-the-art children’s hospital...
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Madera, CA
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