Genetic Load and Phenotype in Aggressive AMD (RPED Genetics)
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ClinicalTrials.gov Identifier: NCT01650948 |
Recruitment Status :
Completed
First Posted : July 26, 2012
Last Update Posted : January 20, 2014
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Condition or disease | Intervention/treatment |
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Age-related Macular Degeneration | Device: RetnaGene AMD LDT |
Study Type : | Observational |
Actual Enrollment : | 100 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Evaluation of Genetic Variants in Patients Under Treatment for Choroidal Neovascular (CNV) Age-related Macular Degeneration (AMD), Receiving Intravitreal antiVEGF Injections to Evaluate the Association Between Genetic Load and Phenotypes Associated With More Aggressive Forms of Disease. |
Study Start Date : | July 2012 |
Actual Primary Completion Date : | December 2013 |
Actual Study Completion Date : | December 2013 |

Group/Cohort | Intervention/treatment |
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AMD subjects with GA and/or RPED
All subjects will have AMD and GA and/or RPED.
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Device: RetnaGene AMD LDT |
AMD subjects with CNV alone
All subjects will have the CNV form of AMD only.
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Device: RetnaGene AMD LDT |
- The identification of individual genetic markers or a quantitative measure of total genetic burden found to be significantly associated (p value <0.05) with group classification (CNV only versus CNV with GA and/or RPED). [ Time Frame: 1 day ]
Biospecimen Retention: Samples With DNA

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Ages Eligible for Study: | 50 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Probability Sample |
Inclusion Criteria:
- Subject is male or female 50 years of age and older
- Subject provides a signed and dated informed consent
- Subject agrees to provide two buccal swabs in accordance with this protocol
- Diagnosis of CNV secondary to AMD in at least one eye
Exclusion Criteria:
- Previous sample donation under this protocol
- Presence of retinal disease involving the photoreceptors and/or outer retinal layers other than AMD loss such as high myopia, retinal dystrophies, central serous retinopathy, vein occlusion, diabetic retinopathy and uveitis or similar outer retinal diseases which have been present prior to the age of 50.
- Opacities of the ocular media, limitations of pupillary dilation or other problems sufficient to preclude adequate imaging of the posterior segment.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01650948
United States, California | |
Pacific Eye Associates | |
San Francisco, California, United States, 94115 | |
United States, Kentucky | |
Retina Associates of Kentucky | |
Lexington, Kentucky, United States, 40509 | |
United States, Tennessee | |
Tennessee Retina | |
Nashville, Tennessee, United States, 37203 |
Responsible Party: | Sequenom, Inc. |
ClinicalTrials.gov Identifier: | NCT01650948 |
Other Study ID Numbers: |
SQNM-AMD-106 |
First Posted: | July 26, 2012 Key Record Dates |
Last Update Posted: | January 20, 2014 |
Last Verified: | January 2014 |
age-related macular degeneration AMD |
Macular Degeneration Retinal Degeneration Retinal Diseases Eye Diseases |