Ignite Creation Date:
2024-05-05 @ 11:29 AM
Last Modification Date:
2024-10-26 @ 9:08 AM
Study NCT ID:
NCT00058695
Status:
TERMINATED
Last Update Posted:
2018-02-14
First Post:
2003-04-11
Brief Title:
Genetic Factors in Age-Related Macular Degeneration
Sponsor:
National Eye Institute NEI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Evaluation of Single Nucleotide Polymorphism SNP in Patients With and Subjects Without Age-Related Macular Degeneration AMD
Status:
TERMINATED
Status Verified Date:
2015-10-21
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:
This study will examine whether certain polymorphisms small gene variances predispose people to develop age-related macular degeneration AMD This eye condition affects people over 50 years of age and can cause permanent loss of central vision The study will examine and compare the frequency of polymorphisms in patients with AMD to that of individuals without AMD This information will help identify genetic risk factors for the AMD and may lead to the development of more effective treatments
Patients 50 years of age and older with advanced AMD and healthy normal volunteers may be eligible for this study All participants will provide an eye health history and will have 10 milliliters 2 teaspoons of blood drawn from an arm vein The DNA in the blood will be isolated and tested for certain genes that other research indicates are important in aging and age-related diseases The normal and polymorphic gene sequences will be identified and compared in patients with AMD and control subjects to determine if any of the polymorphisms are related to development of AMD
In addition control subjects will have a routine eye examination including dilation of the pupils for examination of the back of the eye
Patients 50 years of age and older with advanced AMD and healthy normal volunteers may be eligible for this study All participants will provide an eye health history and will have 10 milliliters 2 teaspoons of blood drawn from an arm vein The DNA in the blood will be isolated and tested for certain genes that other research indicates are important in aging and age-related diseases The normal and polymorphic gene sequences will be identified and compared in patients with AMD and control subjects to determine if any of the polymorphisms are related to development of AMD
In addition control subjects will have a routine eye examination including dilation of the pupils for examination of the back of the eye
Detailed Description:
Age-related macular degeneration AMD is the leading cause of irreversible severe central visual loss older than 50 in the world1 The incidence and progression of all the features of AMD are known to increase significantly with age2-4 In a recent study Klein et al reported that approximately 156 of the US population aged 60 years and older in 2005-2008 had signs of AMD5 In a study in Iceland the prevalence of early AMD was 124 for those aged 66 to 74 years and 36 for those aged 85 years and older6 Currently in the United States advanced AMD affects more than 175 million people and the number will increase to 295 million by the year 20207
Epidemiological studies of genome wide association study GWAS candidate gene association and linkage disequilibrium suggest that AMD has a significant genetic component7-10 Ample evidence supports the hypothesis that variance of genes involved in DNA repair11-13 oxidative stress14 15 and inflammation16-20 play a role in aging and age-related diseases Many studies have documented the association between polymorphisms in complement factors CF oxidative stress apolipoprotein E ApoE mitochondria and chaperone proteins genes and AMD21-23 Single nucleotide polymorphism SNP in ApoE ApoE or C2BF may protect AMD On the other hand SNP in CFH AMRS2HTRA-1 or CX3CR1 gene may increase AMD risk24 In this study we would like to test whether the variations of biologically plausible genes or the modifying genes listed above are differentially distributed in AMD patients and normal populations To this end we choose genes that are believed to play a crucial role in the aging process and will analyze the frequency of SNPs specifically within the coding frames of biologically plausible genes responsible for aging and age-related diseases
Our aim will be to compare the allelic frequencies of candidate genes listed above in cohorts with AMD to the frequency in normal control subjects without AMD With this study we hope to identify genetic risk factors that could have functional implications for understanding and treating AMD
Epidemiological studies of genome wide association study GWAS candidate gene association and linkage disequilibrium suggest that AMD has a significant genetic component7-10 Ample evidence supports the hypothesis that variance of genes involved in DNA repair11-13 oxidative stress14 15 and inflammation16-20 play a role in aging and age-related diseases Many studies have documented the association between polymorphisms in complement factors CF oxidative stress apolipoprotein E ApoE mitochondria and chaperone proteins genes and AMD21-23 Single nucleotide polymorphism SNP in ApoE ApoE or C2BF may protect AMD On the other hand SNP in CFH AMRS2HTRA-1 or CX3CR1 gene may increase AMD risk24 In this study we would like to test whether the variations of biologically plausible genes or the modifying genes listed above are differentially distributed in AMD patients and normal populations To this end we choose genes that are believed to play a crucial role in the aging process and will analyze the frequency of SNPs specifically within the coding frames of biologically plausible genes responsible for aging and age-related diseases
Our aim will be to compare the allelic frequencies of candidate genes listed above in cohorts with AMD to the frequency in normal control subjects without AMD With this study we hope to identify genetic risk factors that could have functional implications for understanding and treating AMD
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
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 03-EI-0155 | None | None | None |