Ignite Creation Date:
2024-05-05 @ 10:03 PM
Last Modification Date:
2024-10-26 @ 10:13 AM
Study NCT ID:
NCT01016106
Status:
COMPLETED
Last Update Posted:
2015-05-01
First Post:
2009-11-17
Brief Title:
Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
Sponsor:
Northwestern University
Organization:
Northwestern University
Study Overview
Official Title:
Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
Status:
COMPLETED
Status Verified Date:
2015-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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
Detailed Description:
Genetic screening and molecular dermatology allow physicians and scientists to screen populations who manifest a specific genetic disorder of skin hair or nails and to study animal models for experiment-induced dermatopathology diseases and treatments The purpose of such screening is to identify the genes involved in eliciting the phenotypic characteristics that we as clinicians identify for diagnosis and treatment of said diseases
The field of genetics in dermatology has progressed immensely in the last 20 years and has strongly influenced the practice of dermatology Most known single gene disorders such as epidermoloysis bullosa have been mapped to a particular chromosomal region and in many cases the causative genes have been identified However more common diseases that are polygenic in origin such as atopic dermatitis remain a challenge to decipher In addition there still remain several monogenic disorders in which the underlying genetic basis is unclear
In some cases genetic analysis can be performed by sequencing entire genes or gene regions or screening for specific common mutations In the Japanese and some of the European populations several researchers have been able to find an association between people with atopic dermatitis and ichythosis vulgaris and the filaggrin gene Atopic dermatitis or ezcema is a common chronic relapsing and remitting problem in many children and affects 10-20 of the pediatric population Atopic dermatitis is often called the itch that rashes since 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 Though treatments are available to help the rash resolve and to help with itch this disease will continue to appear when treatments are stopped and often become infected
Ichythosis vulgaris is quite prevalent an estimated 1 in 250 persons are affected It is characterized by extremely dry scaly skin with a fine white scale and increased amounts of lines noted on the palms Ichythosis vulgaris is thought to happen due to a combination of excess production of one of the layers of the skin and abnormal skin shedding
Filaggrin is a protein that is essential for the skin to function properly as a barrier It was initially thought to be one of the genes responsible for causing atopic dermatitis in 2006 after it was identified as the causal mutation in ichthyosis vulgaris This association has been extensively studied in the European population and to a lesser extent in the Japanese population however has not been looked at in the African American population These new insights may help lead to future targeted therapy for these two extraordinarily common skin disorders
General clinical applications of methods for diagnosis may include histological tissue examination laboratory-based specimen analysis and physical examination However although useful all of these methods are limited to the identification of the phenotypic expression of the genetic abnormality Conversely genetic screening of tissue collected via buccal swabs enables the clinician and scientist to have access to a more finite method of diagnosis treatment and prevention options Such methods of testing are particularly appealing for use in disorders in which the exact basis of the disease is unknown as is the case of atopic dermatitis and ichythosis vulgaris in the African American population Thus genetic screening in the field of dermatology remains an important research agenda and is the focus of this proposal This study allows for the collection of genetic material from patients seen in the dermatology clinic at Ann Robert H Lurie Childrens Hospital of Chicago
The field of genetics in dermatology has progressed immensely in the last 20 years and has strongly influenced the practice of dermatology Most known single gene disorders such as epidermoloysis bullosa have been mapped to a particular chromosomal region and in many cases the causative genes have been identified However more common diseases that are polygenic in origin such as atopic dermatitis remain a challenge to decipher In addition there still remain several monogenic disorders in which the underlying genetic basis is unclear
In some cases genetic analysis can be performed by sequencing entire genes or gene regions or screening for specific common mutations In the Japanese and some of the European populations several researchers have been able to find an association between people with atopic dermatitis and ichythosis vulgaris and the filaggrin gene Atopic dermatitis or ezcema is a common chronic relapsing and remitting problem in many children and affects 10-20 of the pediatric population Atopic dermatitis is often called the itch that rashes since 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 Though treatments are available to help the rash resolve and to help with itch this disease will continue to appear when treatments are stopped and often become infected
Ichythosis vulgaris is quite prevalent an estimated 1 in 250 persons are affected It is characterized by extremely dry scaly skin with a fine white scale and increased amounts of lines noted on the palms Ichythosis vulgaris is thought to happen due to a combination of excess production of one of the layers of the skin and abnormal skin shedding
Filaggrin is a protein that is essential for the skin to function properly as a barrier It was initially thought to be one of the genes responsible for causing atopic dermatitis in 2006 after it was identified as the causal mutation in ichthyosis vulgaris This association has been extensively studied in the European population and to a lesser extent in the Japanese population however has not been looked at in the African American population These new insights may help lead to future targeted therapy for these two extraordinarily common skin disorders
General clinical applications of methods for diagnosis may include histological tissue examination laboratory-based specimen analysis and physical examination However although useful all of these methods are limited to the identification of the phenotypic expression of the genetic abnormality Conversely genetic screening of tissue collected via buccal swabs enables the clinician and scientist to have access to a more finite method of diagnosis treatment and prevention options Such methods of testing are particularly appealing for use in disorders in which the exact basis of the disease is unknown as is the case of atopic dermatitis and ichythosis vulgaris in the African American population Thus genetic screening in the field of dermatology remains an important research agenda and is the focus of this proposal This study allows for the collection of genetic material from patients seen in the dermatology clinic at Ann Robert H Lurie Childrens Hospital of Chicago
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None