Evaluation of Single Nucleotide Polymorphisms (SNPs) in Patients With and Without Diabetic Macular Edema
| Status: | Terminated |
|---|---|
| Conditions: | Cardiology, Ocular, Diabetes |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Endocrinology, Ophthalmology |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 10/8/2017 |
| Start Date: | July 7, 2010 |
| End Date: | August 7, 2013 |
Background:
- Diabetic macular edema (DME) is a common condition in people with diabetes. DME occurs when
blood vessels in the eye leak fluid, resulting in swelling inside the back of the eye and
progressive vision loss. Research has shown that good blood sugar control can reduce the risk
and severity of DME. However, not all diabetic patients with poor blood sugar control develop
DME, and some patients develop DME despite excellent blood sugar control. This suggests that
other factors, such as genes or inherited traits, may predispose or protect a diabetic
patient from developing DME.
Objectives:
- To investigate genetic factors that may influence the development of diabetic macular
edema.
Eligibility:
- Individuals at least 18 years of age who have type 2 diabetes, with or without diabetic
macular edema.
Design:
- The study will require one visit to the National Institutes of Health eye clinic.
- Participants will be screened with a medical history and basic eye examination.
Individuals who have certain eye diseases other than DME may not be allowed to enroll in
the study.
- Participants will provide a blood sample, and will receive fluorescein angiography (an
injection of fluorescein dye, after which a camera will take pictures of the dye as it
flows through the blood vessels in the eye).
- No treatment will be provided as part of this protocol.
- Diabetic macular edema (DME) is a common condition in people with diabetes. DME occurs when
blood vessels in the eye leak fluid, resulting in swelling inside the back of the eye and
progressive vision loss. Research has shown that good blood sugar control can reduce the risk
and severity of DME. However, not all diabetic patients with poor blood sugar control develop
DME, and some patients develop DME despite excellent blood sugar control. This suggests that
other factors, such as genes or inherited traits, may predispose or protect a diabetic
patient from developing DME.
Objectives:
- To investigate genetic factors that may influence the development of diabetic macular
edema.
Eligibility:
- Individuals at least 18 years of age who have type 2 diabetes, with or without diabetic
macular edema.
Design:
- The study will require one visit to the National Institutes of Health eye clinic.
- Participants will be screened with a medical history and basic eye examination.
Individuals who have certain eye diseases other than DME may not be allowed to enroll in
the study.
- Participants will provide a blood sample, and will receive fluorescein angiography (an
injection of fluorescein dye, after which a camera will take pictures of the dye as it
flows through the blood vessels in the eye).
- No treatment will be provided as part of this protocol.
Objective:
The objective of this study is to test the hypothesis that genetic polymorphisms of vascular
endothelial growth factor (VEGF), erythropoietin (EPO), endothelin-1 (EDN1) and receptor for
advanced glycation end product (RAGE) genes are associated with the development of diabetic
macular edema (DME).
Study Population:
Two hundred case participants with DME and 200 diabetic controls without DME will be
enrolled.
Design:
This is a longitudinal, genetic association study evaluating whether single nucleotide
polymorphisms (SNPs) in VEGF, EPO, EDN1 and RAGE genes affect the development and progression
of DME. All participants will provide a blood sample, undergo an eye examination, optical
coherence tomography (OCT) and fluorescein angiography (FA) and discuss their medical, family
and social history. Case participants with DME and diabetic control participants without DME
will be allowed to receive standard-of-care treatment at the NEI under this protocol.
Outcome Measures:
The primary outcome variable is the genotype frequency of SNPs in the above specific genes of
DME and control participants. Secondary outcomes are serum levels of VEGF, EPO, EDN1 and AGE,
plasma biomarkers such as mRNA and ophthalmic measurements (visual acuity and imaging results
such as FA and OCT results). The longitudinal outcome measure includes investigating
associations between the studied genetic polymorphisms and the long-term response to
standard-of-care therapy.
The objective of this study is to test the hypothesis that genetic polymorphisms of vascular
endothelial growth factor (VEGF), erythropoietin (EPO), endothelin-1 (EDN1) and receptor for
advanced glycation end product (RAGE) genes are associated with the development of diabetic
macular edema (DME).
Study Population:
Two hundred case participants with DME and 200 diabetic controls without DME will be
enrolled.
Design:
This is a longitudinal, genetic association study evaluating whether single nucleotide
polymorphisms (SNPs) in VEGF, EPO, EDN1 and RAGE genes affect the development and progression
of DME. All participants will provide a blood sample, undergo an eye examination, optical
coherence tomography (OCT) and fluorescein angiography (FA) and discuss their medical, family
and social history. Case participants with DME and diabetic control participants without DME
will be allowed to receive standard-of-care treatment at the NEI under this protocol.
Outcome Measures:
The primary outcome variable is the genotype frequency of SNPs in the above specific genes of
DME and control participants. Secondary outcomes are serum levels of VEGF, EPO, EDN1 and AGE,
plasma biomarkers such as mRNA and ophthalmic measurements (visual acuity and imaging results
such as FA and OCT results). The longitudinal outcome measure includes investigating
associations between the studied genetic polymorphisms and the long-term response to
standard-of-care therapy.
- INCLUSION CRITERIA:
All participants must meet the following criteria:
Participant is diagnosed with type 2 diabetes prior to enrollment.
Participant must understand and sign this protocol s informed consent document and agree to
provide a blood sample for analysis.
Participant must be 18 years of age or older.
DME Participants (cases):
Participant is diagnosed with active DME defined by fluorescein leakage associated with
either central retinal thickness greater than 260 microns on spectral domain OCT or cystic
changes present on OCT.
OR
Participant has evidence of focal laser scars indicative of prior DME Investigators will
verify the laser therapy was performed for DME via medical records, fluorescein angiograms
or photographs.
Non-DME Participants (controls)
Participant has no evidence of DME defined fluorescein leakage associated with either
central retinal thickness greater than 260 microns on spectral domain OCT or cystic changes
present on OCT.
Participant has no evidence of focal laser scars indicative of prior DME.
EXCLUSION CRITERIA:
Participant has another retinal disease that may confound the evaluation of the DME.
Examples include vein occlusions, uveitic macular edema or neovascular age-related macular
degeneration.
Participant has opacities of the ocular media, limitations of pupillary dilation or other
problems sufficient to preclude adequate dilated examination.
We found this trial at
1
site
9000 Rockville Pike
Bethesda, Maryland 20892
Bethesda, Maryland 20892
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