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

NCT01016106 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 35

Last updated 2015-05-01

Study results available
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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.

Conditions

Interventions

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.

Sponsors & Collaborators

Principal Investigators

  • Amy S Paller, MD · Northwestern University

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
DOUBLE
Model
SINGLE_GROUP

Eligibility

Min Age
6 Months
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2010-06-30
Primary Completion
2010-10-31
Completion
2011-09-30

Countries

  • United States

Study Locations

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Entities

Diseases
Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01016106 on ClinicalTrials.gov