Mode
Text Size
Log in / Sign up
N/A N=35 Double-blind Diagnostic

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

Atopic Dermatitis · Ichthyosis Vulgaris

Enrolled (actual)
35
Serious AEs
0.0%
Results posted
Jun 2013
Primary outcome: Primary: Heterozygous for Filaggrin (FLG) Null Mutations — 1; 4 participants

Study Design & Population

Study type
Interventional
Phase
N/A
Interventions
Buccal Swab (Genetic)
Age
Pediatric, Adult, Older Adult · 0+ yrs
Sex
All
Sponsor
Northwestern University
Primary completion
Oct 2010

Outcome Measures

OutcomeResultp-value
PRIMARY
Heterozygous for Filaggrin (FLG) Null Mutations
1; 4

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.

Eligibility 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
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT01016106). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

Back to search