Genetic Analysis of Chronic Central Serous Chorioretinopathy Masquerading as Neovascular AMD

September 17, 2015 updated by: K. Bailey Freund, MD, Sequenom, Inc.

Evaluation of Genetic Variants in Patients With Type 1 Neovascularization (Sub-retinal Pigment Epithelium Neovascularization) Who Lack Typical Findings of Age Related Macular Degeneration (AMD) But Present With Findings More Consistent With Long-standing Central Serous Chorioretinopathy (CSC).

The study will be designed as a case control evaluation to compare the genetic profiles of three groups of patients categorized according to diagnosis.

Group 1 - CNV secondary to CSC Group 2 - CSC without CNV Group 3 - CNV secondary to advanced AMD.

Study Overview

Status

Completed

Conditions

Detailed Description

To determine if patients presenting with type 1 neovascularization believed to be secondary to CSC are genetically distinct from typical CSC patients without neovascularization or patients presenting with choroidal neovascularization (CNV) secondary to advanced AMD. Disease associated markers detecting variants in ARMS 2, Complement Factor H (CFH) Complement component 3 (C3), Complement component 2 (C2) , Factor B (FB), VEGFA or other genetic polymorphisms associated with CNV will be evaluated to determine if the CSC neovascular group is genetically distinct from the CSC group without neovascularization or the advanced AMD group.

Study Type

Observational

Enrollment (Actual)

152

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • New York
      • New York City, New York, United States, 10022
        • Vitreous Retina Macula Consultants of New York

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

30 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Patients seen for routine visits at the offices of Vitreous Retina Macula Consultants of New York.

Enrollment will include 150 subjects: 50 will be selected based on diagnosis of CNV secondary to CSC 50 will be selected based on diagnosis of CSC without neovascularization and 50 selected based on diagnosis of CNV secondary to advanced AMD.

Description

Inclusion Criteria:

  • Caucasian
  • 30 years and older (CSC)
  • 50 years and older (Advanced AMD)
  • Genders Eligible for Study: Both
  • Completed Consent form
  • Diagnosis of choroidal neovascularization in at least one eye

Exclusion Criteria:

  • Patient age less than 30 years (CSC).
  • Patient age less than 50 years (AMD).
  • Presence of retinal disease involving the photoreceptors and/or outer retinal layers other than AMD and CSC such as high myopia, retinal dystrophies, retinal vein occlusion, diabetic retinopathy and uveitis or similar outer retinal diseases which have been present prior to the age of 30.
  • Opacities of the ocular media, limitations of pupillary dilation or other problems sufficient to preclude adequate fundus photography.
  • Missing informed consent
  • Previous sample donation under this protocol

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
CNV secondary to CSC
CSC without CNV
CNV secondary to advanced AMD

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Total genetic burden
Time Frame: Baseline assessment
The identification of individual genetic markers or a quantitative measure of total genetic burden associated with CNV secondary to CSC vs. CSC vs. CNV secondary to advanced AMD as meaured by the commercially available RetnaGene AMD assay.
Baseline assessment

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sequenom, Inc.

Collaborators

Vitreous -Retina- Macula Consultants of New York

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

November 1, 2012

Primary Completion (Actual)

March 1, 2015

Study Completion (Actual)

August 1, 2015

Study Registration Dates

First Submitted

May 16, 2013

First Submitted That Met QC Criteria

June 18, 2013

First Posted (Estimate)

June 19, 2013

Study Record Updates

Last Update Posted (Estimate)

September 18, 2015

Last Update Submitted That Met QC Criteria

September 17, 2015

Last Verified

September 1, 2015

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • SCMM-AMD-107

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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