ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 3 of 4 for:    "Ichthyosis vulgaris"

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT01016106
Recruitment Status : Completed
First Posted : November 18, 2009
Results First Posted : June 20, 2013
Last Update Posted : May 1, 2015
Sponsor:
Collaborator:
ViraCor Laboratories
Information provided by (Responsible Party):
Amy Paller, Northwestern University

Study Type Interventional
Study Design Allocation: Non-Randomized;   Intervention Model: Single Group Assignment;   Masking: Double (Participant, Outcomes Assessor);   Primary Purpose: Diagnostic
Conditions Atopic Dermatitis
Ichthyosis Vulgaris
Intervention Genetic: Buccal Swab
Enrollment 35
Recruitment Details  
Pre-assignment Details  
Arm/Group Title African American (AA) Control Subjects AA Subjects With Atopic Dermatitis and Ichthyosis Vulgaris
Hide Arm/Group Description 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. African American subjects with a diagnosis of atopic dermatitis and ichthyosis vulgaris. Buccal swabs were obtained from each subject for deoxyribonucleic acid (DNA) analysis.
Period Title: Overall Study
Started 17 18
Completed 17 18
Not Completed 0 0
Arm/Group Title African American (AA) Control Subjects AA Subjects With Atopic Dermatitis and Ichthyosis Vulgaris Total
Hide Arm/Group Description African American subjects with no personal or family history of ichthyosis vulgaris or atopy. Buccal swabs were obtained from each subject for DNA analysis. African American subjects with a diagnosis of atopic dermatitis and ichthyosis vulgaris. Buccal swabs were obtained from each subject for DNA analysis. Total of all reporting groups
Overall Number of Baseline Participants 17 18 35
Hide Baseline Analysis Population Description
[Not Specified]
Age, Categorical  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 17 participants 18 participants 35 participants
<=18 years
2
  11.8%
17
  94.4%
19
  54.3%
Between 18 and 65 years
8
  47.1%
1
   5.6%
9
  25.7%
>=65 years
7
  41.2%
0
   0.0%
7
  20.0%
Sex: Female, Male  
Measure Type: Count of Participants
Unit of measure:  Participants
Number Analyzed 17 participants 18 participants 35 participants
Female
10
  58.8%
12
  66.7%
22
  62.9%
Male
7
  41.2%
6
  33.3%
13
  37.1%
Region of Enrollment  
Measure Type: Number
Unit of measure:  Participants
United States Number Analyzed 17 participants 18 participants 35 participants
17 18 35
1.Primary Outcome
Title Heterozygous for Filaggrin (FLG) Null Mutations
Hide Description 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.
Time Frame 1 month
Show Outcome Measure DataHide Outcome Measure Data
Hide Analysis Population Description
[Not Specified]
Arm/Group Title African American (AA) Control Subjects AA Subjects With Atopic Dermatitis and Ichthyosis Vulgaris
Hide Arm/Group Description:
African American subjects with no personal or family history of ichthyosis vulgaris or atopy. Buccal swabs were obtained from each subject for DNA analysis.
African American subjects with a diagnosis of atopic dermatitis and ichthyosis vulgaris. Buccal swabs were obtained from each subject for DNA analysis.
Overall Number of Participants Analyzed 17 18
Measure Type: Number
Unit of Measure: participants
1 4
Time Frame [Not Specified]
Adverse Event Reporting Description [Not Specified]
 
Arm/Group Title African American (AA) Control Subjects AA Subjects With Atopic Dermatitis and Ichthyosis Vulgaris
Hide Arm/Group Description African American subjects with no personal or family history of ichthyosis vulgaris or atopy. Buccal swabs were obtained from each subject for DNA analysis. African American subjects with a diagnosis of atopic dermatitis and ichthyosis vulgaris. Buccal swabs were obtained from each subject for DNA analysis.
All-Cause Mortality
African American (AA) Control Subjects AA Subjects With Atopic Dermatitis and Ichthyosis Vulgaris
Affected / at Risk (%) Affected / at Risk (%)
Total   --/--   --/-- 
Show Serious Adverse Events Hide Serious Adverse Events
African American (AA) Control Subjects AA Subjects With Atopic Dermatitis and Ichthyosis Vulgaris
Affected / at Risk (%) Affected / at Risk (%)
Total   0/17 (0.00%)   0/18 (0.00%) 
Show Other (Not Including Serious) Adverse Events Hide Other (Not Including Serious) Adverse Events
Frequency Threshold for Reporting Other Adverse Events 5%
African American (AA) Control Subjects AA Subjects With Atopic Dermatitis and Ichthyosis Vulgaris
Affected / at Risk (%) Affected / at Risk (%)
Total   0/17 (0.00%)   0/18 (0.00%) 
Certain Agreements
All Principal Investigators ARE employed by the organization sponsoring the study.
Results Point of Contact
Name/Title: Mandy Browning
Organization: Northwestern University
Phone: 312-695-6829
Responsible Party: Amy Paller, Northwestern University
ClinicalTrials.gov Identifier: NCT01016106     History of Changes
Other Study ID Numbers: CMH 2010-14049
First Submitted: November 17, 2009
First Posted: November 18, 2009
Results First Submitted: April 30, 2013
Results First Posted: June 20, 2013
Last Update Posted: May 1, 2015