Genetic Load and Phenotype in Aggressive AMD (RPED Genetics)
This study has been completed.
Sponsor:
Sequenom, Inc.
ClinicalTrials.gov Identifier:
NCT01650948
First Posted: July 26, 2012
Last Update Posted: January 20, 2014
Information provided by (Responsible Party):
Sequenom, Inc.
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Purpose
Patients with AMD will provide cheek cell samples to determine if their is a correlation between genotype (DNA markers) and phenotype (the type of AMD the patient has).
| Condition | Intervention |
|---|---|
| Age-related Macular Degeneration | Device: RetnaGene AMD LDT |
| Study Type: | Observational |
| Study Design: | 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. |
Resource links provided by NLM:
Genetics Home Reference related topics:
age-related macular degeneration
MedlinePlus related topics:
Macular Degeneration
U.S. FDA Resources
Further study details as provided by Sequenom, Inc.:
Primary Outcome Measures:
- 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
DNA samples and remnants will be destroyed after analysis.
| Enrollment: | 100 |
| Study Start Date: | July 2012 |
| Study Completion Date: | December 2013 |
| Primary Completion Date: | December 2013 (Final data collection date for primary outcome measure) |
| Groups/Cohorts | Assigned Interventions |
|---|---|
|
AMD subjects with GA and/or RPED
All subjects will have AMD and GA and/or RPED.
|
Device: RetnaGene AMD LDT |
|
AMD subjects with CNV alone
All subjects will have the CNV form of AMD only.
|
Device: RetnaGene AMD LDT |
Detailed Description:
This study seeks to test individuals who have already progressed to various forms of AMD to evaluate correlations between genetic markers and particular features of AMD including geographic atrophy and pigment epithelial detachments. We hypothesize that patients with more aggressive forms of AMD will have a higher genetic burden contributed by markers in ARMS 2, Complement Factor H (CFH), Complement component 3 (C3), Complement component 2 (C2) , Factor B (FB), or other genetic polymorphisms associated with CNV.
Eligibility
Information from the National Library of Medicine
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| Ages Eligible for Study: | 50 Years and older (Adult, Senior) |
| Sexes Eligible for Study: | All |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Probability Sample |
Study Population
Patients with AMD who are or have been treated with anti-VEGF therapy
Criteria
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.
Contacts and Locations
Information from the National Library of Medicine
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
Locations
| 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 | |
Sponsors and Collaborators
Sequenom, Inc.
More Information
| Responsible Party: | Sequenom, Inc. |
| ClinicalTrials.gov Identifier: | NCT01650948 History of Changes |
| Other Study ID Numbers: |
SQNM-AMD-106 |
| First Submitted: | July 24, 2012 |
| First Posted: | July 26, 2012 |
| Last Update Posted: | January 20, 2014 |
| Last Verified: | January 2014 |
Keywords provided by Sequenom, Inc.:
|
age-related macular degeneration AMD |
Additional relevant MeSH terms:
|
Macular Degeneration Retinal Degeneration Retinal Diseases Eye Diseases |