Genetic Load and Phenotype in Aggressive AMD (RPED Genetics)

This study has been completed.

Sponsor:

Information provided by (Responsible Party):

Sequenom, Inc.

ClinicalTrials.gov Identifier:

NCT01650948

First received: July 24, 2012

Last updated: January 16, 2014

Last verified: January 2014

History of Changes

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 ] [ Designated as safety issue: No ]

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


Ages Eligible for Study:	50 Years and older (Adult, Senior)
Genders Eligible for Study:	Both
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

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: 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
Study First Received:	July 24, 2012
Last Updated:	January 16, 2014
Health Authority:	United States: Central IRB

Keywords provided by Sequenom, Inc.:


age-related macular degeneration AMD

Additional relevant MeSH terms:


Macular Degeneration Retinal Degeneration Retinal Diseases Eye Diseases

ClinicalTrials.gov processed this record on September 23, 2016

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