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Association of Macular Pigment Optical Density (MPOD) and Genetic Variants in Complement Factor H in Subjects With Choroidal Neovascular (CNV)

This study has been completed.
Information provided by (Responsible Party):
Sequenom, Inc. Identifier:
First received: September 6, 2012
Last updated: January 16, 2014
Last verified: January 2014

Subjects with wet AMD, dry AMD, and age-matched controls will undergo routine occular measurements, will provide a blood and cheek cell sample, and will have macular pigment optical density (MPOD) measured to determine if there is an association between genetics, MPOD and the risk of progression to wet AMD.

Age-related Macular Degeneration
Choroidal Neovascular Age-related Macular Degeneration

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Collection of Whole Blood Specimens and Buccal Swabs From Subjects Diagnosed With CNV AMD, Dry AMD, and Age-Matched Controls to Assess the Association of Genetic Variants in Complement Factor H With Risk of Progression to CNV.

Resource links provided by NLM:

Further study details as provided by Sequenom, Inc.:

Primary Outcome Measures:
  • Association between a genetic variant in the CFH gene and risk of progression to CNV [ Time Frame: Baseline ] [ Designated as safety issue: No ]
    DNA extracted from blood and buccal cells collected from subjects with either CNV, dry AMD, and age-matched controls will be analyzed to investigate a genetic variant in the CFH gene and its association with risk of progression to CNV

Secondary Outcome Measures:
  • Genetic correlation between MPOD and risk of progression to CNV [ Time Frame: baseline ] [ Designated as safety issue: No ]
    DNA extracted from blood and buccal cells collected from subjects with either CNV, dry AMD, and age-matched controls will be analyzed to investigate the correlation between genetics, MPOD, and risk of progression to CNV

Biospecimen Retention:   Samples With DNA

DNA extracted from whole blood and buccal cells will be analyzed. Remnant samples will be stored for future research in AMD.

Enrollment: 45
Study Start Date: August 2012
Study Completion Date: October 2013
Primary Completion Date: August 2013 (Final data collection date for primary outcome measure)
choroidal neovascular (CNV) AMD subjects
Subjects diagnosed with CNV (AREDS Grade 4b)
dry AMD subjects
Subjects diagnosed with dry AMD (AREDS Grade 3)
age-matched controls
Subjects without AMD (AREDS Grade 1)


Ages Eligible for Study:   60 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Non-Hispanic Caucasian subjects 60 years of age and older diagnosed with either CNV or dry AMD and a cohort of age-matched controls


Inclusion Criteria:

  • subject is diagnosed with either CNV, dry AMD or is an age-matched control
  • self reported as non-Hispanic Caucasian
  • 60 years of age or older
  • provides signed and dated informed consent
  • agrees to provide 10 mL of whole blood and two buccal swabs

Exclusion Criteria:

  • previous donation under this protocol
  Contacts and Locations
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Please refer to this study by its identifier: NCT01682382

United States, California
Morris Eye Group
Encinitas, California, United States, 92024
Sponsors and Collaborators
Sequenom, Inc.
  More Information

No publications provided

Responsible Party: Sequenom, Inc. Identifier: NCT01682382     History of Changes
Other Study ID Numbers: SQNM-AMD-103
Study First Received: September 6, 2012
Last Updated: January 16, 2014
Health Authority: United States: IRB approved

Keywords provided by Sequenom, Inc.:
age-related macular degeneration
choroidal neovascular age-related macular degeneration
macular pigment optical density (MPOD)

Additional relevant MeSH terms:
Macular Degeneration
Wet Macular Degeneration
Eye Diseases
Retinal Degeneration
Retinal Diseases
Complement Factor H
Complement Inactivating Agents
Immunologic Factors
Immunosuppressive Agents
Pharmacologic Actions
Physiological Effects of Drugs processed this record on February 25, 2015