Genetic Analysis of Chronic Central Serous Chorioretinopathy Masquerading as Neovascular AMD

Age Related Macular Degeneration Clinical Trial

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).

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01880788
• Other study ID #: SCMM-AMD-107
• Status: Completed
• Phase: N/A
• First received: May 16, 2013
• Last updated: September 17, 2015
• Start date: November 2012
• Est. completion date: August 2015

Study information

• Verified date: September 2015
• Source: Sequenom, Inc.
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Food and Drug Administration
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 152
• Est. completion date: August 2015
• Est. primary completion date: March 2015
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 30 Years and older

Eligibility

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 Design

Observational Model: Case Control, Time Perspective: Prospective

Related Conditions & MeSH terms

• Age Related Macular Degeneration
• Central Serous Chorioretinopathy
• Choroidal Neovascularization
• Macular Degeneration
• Neovascularization, Pathologic

Locations

Country	Name	City	State
United States	Vitreous Retina Macula Consultants of New York	New York City	New York

Sponsors (2)

Lead Sponsor	Collaborator
Sequenom, Inc.	Vitreous -Retina- Macula Consultants of New York

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Total genetic burden	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	No