Ignite Creation Date:
2024-05-05 @ 7:19 PM
Last Modification Date:
2024-10-26 @ 9:47 AM
Study NCT ID:
NCT00647439
Status:
COMPLETED
Last Update Posted:
2018-12-10
First Post:
2008-03-28
Brief Title:
Genetics and Markers of Degenerative and Inflammatory Eye Diseases
Sponsor:
National Eye Institute NEI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Epigenetics Molecular Genetics and Biomarkers of Degenerative and Inflammatory Ocular Diseases
Status:
COMPLETED
Status Verified Date:
2018-12-04
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:
This study will identify genes that are associated with inflammation or degeneration of the retina membrane lining the back of the eye that relays vision signals to the brain It is thought that many retinal conditions are due to an altered immune system and are based on how the person s genes function and communicate
People 4 years of age or older who have a retinal condition such as uveitis age-related macular degeneration or diabetic retinopathy may be eligible for this study Healthy volunteers and healthy people who have a family member with one of these conditions are also eligible Patients with inherited retinal degeneration are excluded
Participants undergo the following tests and procedures
Eye examination to assess visual acuity eye chart test and eye pressure and to examine the pupils lenses retina and eye movements Photographs of the inside of the eye may also be taken The pupils are dilated with drops for this examination
Blood draw for genetic testing
Participants may also undergo one or more of the following tests
Optical coherence tomography This is a type of photograph of the back of the eye to measure thickness of the retina
Fluorescein angiography and indocyanine green angiography Pictures of the eye s blood vessels are taken using either a fluorescein or indocyanine green dye The dye is injected into a vein in an arm and travels to the blood vessels in the eyes A camera takes pictures of the dye as it flows through the blood vessels
Electroretinogram ERG to measure retinal function The patient sits in a dark room for 30 minutes with his or her eyes patched Then a small metal disk electrode is taped to the forehead the eye patches are removed the surface of the eye is numbed with eye drops and contact lenses are placed on the eyes The patient then watches flashing lights The contact lenses sense small electrical signals generated by the retina when the light flashes
People 4 years of age or older who have a retinal condition such as uveitis age-related macular degeneration or diabetic retinopathy may be eligible for this study Healthy volunteers and healthy people who have a family member with one of these conditions are also eligible Patients with inherited retinal degeneration are excluded
Participants undergo the following tests and procedures
Eye examination to assess visual acuity eye chart test and eye pressure and to examine the pupils lenses retina and eye movements Photographs of the inside of the eye may also be taken The pupils are dilated with drops for this examination
Blood draw for genetic testing
Participants may also undergo one or more of the following tests
Optical coherence tomography This is a type of photograph of the back of the eye to measure thickness of the retina
Fluorescein angiography and indocyanine green angiography Pictures of the eye s blood vessels are taken using either a fluorescein or indocyanine green dye The dye is injected into a vein in an arm and travels to the blood vessels in the eyes A camera takes pictures of the dye as it flows through the blood vessels
Electroretinogram ERG to measure retinal function The patient sits in a dark room for 30 minutes with his or her eyes patched Then a small metal disk electrode is taped to the forehead the eye patches are removed the surface of the eye is numbed with eye drops and contact lenses are placed on the eyes The patient then watches flashing lights The contact lenses sense small electrical signals generated by the retina when the light flashes
Detailed Description:
Objective
This project will study epigenetic mechanisms the inheritance of both Mendelian and complex and biomarkers of Immune Mediated Eye Diseases in families of many nationalities and ethnic backgrounds in order to identify the genes that when genetically mutated or epigenetically regulated cause immune mediated eye disease and the pathophysiology through which they act
Study Population The number of participants to be enrolled has no logical upper limit but will be at 1000 during the next five years Race age and sex matched controls anonymous volunteers will also be needed to donate a blood sample The study consists of ascertaining individuals and families with multiple individuals if possible affected by immune mediated ocular disease
Design
These patients and their families will undergo detailed ophthalmologic examinations and where indicated additional non-investigational examinations to characterize their ocular status A blood sample will be collected from each individual and immunophenotyped using Flow Cytometry Serum will be isolated for testing serological markers One or more sub-populations of cells including but not limited to CD4 plus and CD8 plus T cells B cells CD14 plus monocytes dendritic cells NK cells neutrophils and granulocytes will be isolated DNA RNA and chromatin may be isolated for further gene expression profiling and epigenetic studies Association of genetic or epigenetic changes with ocular inflammatory disease in patients and their families will be identified using one of the techniques including but not limited to DNA-seq BS-seq MeDIP-seq ChIP-seq RNA-seq microarray PCR and multicolor Flow Cytometry staining DNA samples from the AREDS study held under the DCRNEI Repository protocol 07-EI-0168 will also be used for analysis If necessary the gene product or blood sample will be characterized biochemically
Outcome Measures
Immunophenotyping gene expression and epigenetic changes will be reported using Statistical analysis performed using the t test or ANOVA and post-hoc testing with Fisher s least significant difference test Unless otherwise noted results are presented as the mean SEM Biochemical metabolic and physiological effects will be individualized to the specific assay
This project will study epigenetic mechanisms the inheritance of both Mendelian and complex and biomarkers of Immune Mediated Eye Diseases in families of many nationalities and ethnic backgrounds in order to identify the genes that when genetically mutated or epigenetically regulated cause immune mediated eye disease and the pathophysiology through which they act
Study Population The number of participants to be enrolled has no logical upper limit but will be at 1000 during the next five years Race age and sex matched controls anonymous volunteers will also be needed to donate a blood sample The study consists of ascertaining individuals and families with multiple individuals if possible affected by immune mediated ocular disease
Design
These patients and their families will undergo detailed ophthalmologic examinations and where indicated additional non-investigational examinations to characterize their ocular status A blood sample will be collected from each individual and immunophenotyped using Flow Cytometry Serum will be isolated for testing serological markers One or more sub-populations of cells including but not limited to CD4 plus and CD8 plus T cells B cells CD14 plus monocytes dendritic cells NK cells neutrophils and granulocytes will be isolated DNA RNA and chromatin may be isolated for further gene expression profiling and epigenetic studies Association of genetic or epigenetic changes with ocular inflammatory disease in patients and their families will be identified using one of the techniques including but not limited to DNA-seq BS-seq MeDIP-seq ChIP-seq RNA-seq microarray PCR and multicolor Flow Cytometry staining DNA samples from the AREDS study held under the DCRNEI Repository protocol 07-EI-0168 will also be used for analysis If necessary the gene product or blood sample will be characterized biochemically
Outcome Measures
Immunophenotyping gene expression and epigenetic changes will be reported using Statistical analysis performed using the t test or ANOVA and post-hoc testing with Fisher s least significant difference test Unless otherwise noted results are presented as the mean SEM Biochemical metabolic and physiological effects will be individualized to the specific assay
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 |
|---|---|---|---|
| 08-EI-0099 | None | None | None |