Trial Outcomes & Findings for Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population (NCT NCT01016106)

Results Overview

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.

Recruitment status

COMPLETED

Study phase

NA

Target enrollment

35 participants

Primary outcome timeframe

1 month

Results posted on

2015-05-01

Participant Flow

Participant milestones

Participant milestones
Measure	African American (AA) Control Subjects African American subjects with no personal or family history of ichthyosis vulgaris or atopy. Buccal swabs were obtained from each subject for deoxyribonucleic acid (DNA) analysis.	AA Subjects With Atopic Dermatitis and Ichthyosis Vulgaris African American subjects with a diagnosis of atopic dermatitis and ichthyosis vulgaris. Buccal swabs were obtained from each subject for deoxyribonucleic acid (DNA) analysis.
Overall Study STARTED	17	18
Overall Study COMPLETED	17	18
Overall Study NOT COMPLETED	0	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

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

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	African American (AA) Control Subjects n=17 Participants African American subjects with no personal or family history of ichthyosis vulgaris or atopy. Buccal swabs were obtained from each subject for DNA analysis.	AA Subjects With Atopic Dermatitis and Ichthyosis Vulgaris n=18 Participants African American subjects with a diagnosis of atopic dermatitis and ichthyosis vulgaris. Buccal swabs were obtained from each subject for DNA analysis.	Total n=35 Participants Total of all reporting groups
Age, Categorical <=18 years	2 Participants n=5 Participants	17 Participants n=7 Participants	19 Participants n=5 Participants
Age, Categorical Between 18 and 65 years	8 Participants n=5 Participants	1 Participants n=7 Participants	9 Participants n=5 Participants
Age, Categorical >=65 years	7 Participants n=5 Participants	0 Participants n=7 Participants	7 Participants n=5 Participants
Sex: Female, Male Female	10 Participants n=5 Participants	12 Participants n=7 Participants	22 Participants n=5 Participants
Sex: Female, Male Male	7 Participants n=5 Participants	6 Participants n=7 Participants	13 Participants n=5 Participants
Region of Enrollment United States	17 participants n=5 Participants	18 participants n=7 Participants	35 participants n=5 Participants

PRIMARY outcome

Timeframe: 1 month

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.

Outcome measures

Outcome measures
Measure	African American (AA) Control Subjects n=17 Participants African American subjects with no personal or family history of ichthyosis vulgaris or atopy. Buccal swabs were obtained from each subject for DNA analysis.	AA Subjects With Atopic Dermatitis and Ichthyosis Vulgaris n=18 Participants African American subjects with a diagnosis of atopic dermatitis and ichthyosis vulgaris. Buccal swabs were obtained from each subject for DNA analysis.
Heterozygous for Filaggrin (FLG) Null Mutations	1 participants	4 participants

Adverse Events

African American (AA) Control Subjects

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

AA Subjects With Atopic Dermatitis and Ichthyosis Vulgaris

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Mandy Browning

Northwestern University

Phone: 312-695-6829

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place