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Genetic Analysis of Chronic Central Serous Chorioretinopathy Masquerading as Neovascular AMD

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2014 by Sequenom, Inc.
Vitreous -Retina- Macula Consultants of New York
Information provided by (Responsible Party):
K. Bailey Freund, MD, Vitreous -Retina- Macula Consultants of New York Identifier:
First received: May 16, 2013
Last updated: May 14, 2014
Last verified: May 2014

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.

Age Related Macular Degeneration
Choroidal Neovascularization
Central Serous Chorioretinopathy

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: 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).

Resource links provided by NLM:

Further study details as provided by Sequenom, Inc.:

Primary Outcome Measures:
  • Total genetic burden [ Time Frame: Baseline assessment ] [ Designated as safety issue: No ]
    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.

Biospecimen Retention:   Samples With DNA

Buccal cells

Estimated Enrollment: 50
Study Start Date: November 2012
Estimated Study Completion Date: June 2014
Estimated Primary Completion Date: June 2014 (Final data collection date for primary outcome measure)
CNV secondary to CSC
CSC without CNV
CNV secondary to advanced AMD

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.


Ages Eligible for Study:   30 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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.


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
  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 identifier: NCT01880788

Contact: Bailey Freund, MD (212) 861-9797

United States, New York
Vitreous Retina Macula Consultants of New York Recruiting
New York City, New York, United States, 10022
Contact: May Lee    212-452-6965   
Principal Investigator: Bailey Freund, MD         
Sponsors and Collaborators
Sequenom, Inc.
Vitreous -Retina- Macula Consultants of New York
  More Information

No publications provided

Responsible Party: K. Bailey Freund, MD, Clinical Associate Professor at NYU School of Medicine, Vitreous -Retina- Macula Consultants of New York Identifier: NCT01880788     History of Changes
Other Study ID Numbers: SCMM-AMD-107
Study First Received: May 16, 2013
Last Updated: May 14, 2014
Health Authority: United States: Food and Drug Administration

Keywords provided by Sequenom, Inc.:
Age Related Macular Degeneration
Choroidal Neovascularization
Central Serous Chorioretinopathy

Additional relevant MeSH terms:
Central Serous Chorioretinopathy
Choroidal Neovascularization
Macular Degeneration
Neovascularization, Pathologic
Choroid Diseases
Eye Diseases
Pathologic Processes
Retinal Degeneration
Retinal Diseases
Uveal Diseases processed this record on November 20, 2014