Genetic Load and Phenotype in Aggressive AMD (RPED Genetics)

This study is currently recruiting participants.

Verified February 2013 by Sequenom, Inc.

Sponsor:

Information provided by (Responsible Party):

Sequenom, Inc.

ClinicalTrials.gov Identifier:

NCT01650948

First received: July 24, 2012

Last updated: February 11, 2013

Last verified: February 2013

History of Changes

Tracking Information
First Received Date ^ICMJE	July 24, 2012
Last Updated Date	February 11, 2013
Start Date ^ICMJE	July 2012
Estimated Primary Completion Date	December 2013 (final data collection date for primary outcome measure)
Current Primary Outcome Measures ^ICMJE (submitted: July 25, 2012)	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 ]
Original Primary Outcome Measures ^ICMJE	Same as current
Change History	Complete list of historical versions of study NCT01650948 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures ^ICMJE	Not Provided
Original Secondary Outcome Measures ^ICMJE	Not Provided
Current Other Outcome Measures ^ICMJE	Not Provided
Original Other Outcome Measures ^ICMJE	Not Provided

Descriptive Information
Brief Title ^ICMJE	Genetic Load and Phenotype in Aggressive AMD
Official Title ^ICMJE	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.
Brief Summary	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).
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.
Study Type ^ICMJE	Observational
Study Design ^ICMJE	Observational Model: Cohort Time Perspective: Prospective
Target Follow-Up Duration	Not Provided
Biospecimen	Retention: Samples With DNA Description: DNA samples and remnants will be destroyed after analysis.
Sampling Method	Probability Sample
Study Population	Patients with AMD who are or have been treated with anti-VEGF therapy
Condition ^ICMJE	Age-related Macular Degeneration
Intervention ^ICMJE	Device: RetnaGene AMD LDT
Study Group/Cohort (s)	AMD subjects with GA and/or RPED All subjects will have AMD and GA and/or RPED. Intervention: Device: RetnaGene AMD LDT AMD subjects with CNV alone All subjects will have the CNV form of AMD only. Intervention: Device: RetnaGene AMD LDT
Publications *	Not Provided
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.

Recruitment Information
Recruitment Status ^ICMJE	Recruiting
Estimated Enrollment ^ICMJE	100
Estimated Completion Date	December 2013
Estimated Primary Completion Date	December 2013 (final data collection date for primary outcome measure)
Eligibility Criteria ^ICMJE	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.
Gender	Both
Ages	50 Years and older
Accepts Healthy Volunteers	No
Contacts ^ICMJE	Not Provided
Location Countries ^ICMJE	United States

Administrative Information
NCT Number ^ICMJE	NCT01650948
Other Study ID Numbers ^ICMJE	SQNM-AMD-106
Has Data Monitoring Committee	No
Responsible Party	Sequenom, Inc.
Study Sponsor ^ICMJE	Sequenom, Inc.
Collaborators ^ICMJE	Not Provided
Investigators ^ICMJE	Not Provided
Information Provided By	Sequenom, Inc.
Verification Date	February 2013
^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP

To Top