(P01-001-24) The Moran AMD Genetic Testing Assessment (MAGENTA) Trial

Objectives: A 2012 American Academy of Ophthalmology expert panel recommends against routine genetic testing for age-related macular degeneration (AMD) risk in asymptomatic individuals because there is no evidence of any clinical or public health value following the disclosure of such information. There have been no prospective studies to support this stance to date. Hence, the MAGENTA study (NCT05265624), a single-site, randomized, double-masked, controlled clinical trial, seeks to determine whether knowledge of AMD risk could spur quantifiable lifestyle changes associated with a lower risk of developing AMD later in life.

Methods: 80 subjects aged 18-64 years old with no macular pathology interested in knowing their genetic risk of developing AMD were recruited between August 2022 and July 2023. Individuals with a family history of AMD were encouraged to enroll to provide a broad range of AMD risks in the study population. A genetic counselor randomized subjects by a 3:1 ratio to immediate disclosure of AMD risk or deferred disclosure at 1 year. The study outcome assesses skin, serum, and macular carotenoid levels at 1 year as a biomarker of improved nutritional status associated with a healthier lifestyle that could decrease the risk of onset and progression of AMD.

Results: Only baseline results are available at this time because the study is ongoing and still masked. 17 males and 63 females enrolled with a mean age of 48.6±10.6 years (range: 22–64 years). 94% of subjects have a family history of AMD in a parent or grandparent. AMD genetic risk was evenly distributed between high, intermediate, and low (36%, 24%, and 40%, respectively). Compliance with scheduled study visits every 90 days has been high ( >96%). No adverse events related to AMD risk disclosure have occurred.

Conclusions: Community enthusiasm for pre-symptomatic genetic testing for AMD risk is strong, as evidenced by the rapid enrollment of 80 subjects at a single site. The results of this phase 2 study will provide much-needed evidence for the potential value of wider usage of AMD genetic risk testing and could be used to power future larger multicenter studies.

Funding Sources: NIH Grant