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

Completed · Not applicable

Conditions studied: Atopic Dermatitis, Ichthyosis Vulgaris

In brief

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.

Key facts

Study ID

NCT01016106

Run by

Northwestern University

People needed

35

Starts

2010-06-01

Expected to finish

2011-09-01

Last updated by the study team

2015-05-01

Who can join

Age: 1 and older. Sex: any. Healthy volunteers: accepted.

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

Where it is running

• Ann & Robert H Lurie CHildren's Hospital of Chicago — Chicago, Illinois, United States
• University of Chicago — Chicago, Illinois, United States

Full record on ClinicalTrials.gov

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