Value of Genetic Counseling and Testing for Patients Who Would Like to Know More About Their Personal Risk of AMD

The goals of this study are:

To assess the impact of genetic testing based on how it alters behaviors, to assess the utility of serum biomarker measurement in combination with genetic testing, to assess the utility of genetic counseling in personal analysis of risk for age-related macular degeneration (AMD), and to assess the impact of presymptomatic genetic testing for choroidal neovascularization (CNV).

Study Overview

• Status: Completed
• Conditions: Age-Related Macular Degeneration; Choroidal Neovascularization; Genetic Counseling
• Intervention / Treatment: Behavioral: Early disclosure; Behavioral: Late disclosure

• Study Type: Interventional
• Enrollment (Actual): 16
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Utah
    • Salt Lake City, Utah, United States, 84132
      • University of Utah John A. Moran Eye Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 64 years (Adult)
• Accepts Healthy Volunteers: Yes

Description

Inclusion Criteria:

• Caucasian (this particular genetic test is only validated in Caucasians) Participants can have a positive family history of AMD but this is not necessary.

Exclusion Criteria:

• Individuals with a personal history of AMD are not eligible. Non-caucasian individuals are not eligible. Employees of the Moran Eye Center are not eligible.
• Individuals with a personal history of previous AMD genetic risk testing are not eligible.
• Individuals with a major psychiatric disorder

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Prevention
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: Triple

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Early disclosure; Early disclosure group receives results of genetic testing at Week 4	Behavioral: Early disclosure
Active Comparator: Late disclosure; Late disclosure group receives results of genetic testing at final study visit (Month 12)	Behavioral: Late disclosure

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in carotenoid levels in the skin	Carotenoid levels in the skin are measured non-invasively at baseline and again at 12 months. Carotenoid levels are a biomarker of fruit and vegetable intake.	Twelve months
Change in carotenoid levels in the eyes	Carotenoid levels in the eyes are measured non-invasively at baseline and again at 12 months.	Twelve months

Collaborators and Investigators

• Sponsor: University of Utah
• Investigators: Principal Investigator: Paul S. Bernstein, MD, PhD, University of Utah Moran Eye Center

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2016
• Primary Completion (Actual): August 10, 2017
• Study Completion (Actual): August 10, 2017

Study Registration Dates

• First Submitted: January 11, 2017
• First Submitted That Met QC Criteria: January 13, 2017
• First Posted (Estimate): January 18, 2017

Study Record Updates

• Last Update Posted (Estimate): May 5, 2023
• Last Update Submitted That Met QC Criteria: May 3, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Eye Diseases; Retinal Degeneration; Retinal Diseases; Uveal Diseases; Choroid Diseases; Metaplasia; Macular Degeneration; Choroidal Neovascularization; Neovascularization, Pathologic
• Other Study ID Numbers: IRB 60413

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No