Genetic Analysis of Chronic Central Serous Chorioretinopathy Masquerading as Neovascular AMD

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Central serous chorioretinopathy
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Brief Title

Genetic Analysis of Chronic Central Serous Chorioretinopathy Masquerading as Neovascular AMD

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).

Brief Summary

      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.

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

Primary Outcome

Total genetic burden

Condition

Age Related Macular Degeneration

Study Arms / Comparison Groups

 CNV secondary to CSC
Description:

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment

152

Start Date

November 2012

Completion Date

August 2015

Primary Completion Date

March 2015

Eligibility Criteria

        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

Gender

All

Ages

30 Years - N/A

Accepts Healthy Volunteers

No

Contacts

, ,

Location Countries

United States

Location Countries

United States

Administrative Informations

NCT ID

NCT01880788

Organization ID

SCMM-AMD-107

Responsible Party

Principal Investigator

Study Sponsor

Sequenom, Inc.

Collaborators

 Vitreous -Retina- Macula Consultants of New York

Study Sponsor

, ,

Verification Date

September 2015