Avellino Labs Commences Cross-Sectional Study of the Prevalence of TGFBI Corneal Dystrophies in a North American Population

MENLO PARK, Calif., May 6, 2016 /CNW/ -- Avellino Labs, developer of the first and only commercially available genetic test for corneal health, today announced that they have launched a study to better understand the prevalence of the corneal dystrophies associated with mutations in the TGFBI gene in North America.

To view the Avellino Labs press kit for ASCRS 2016, please visit: http://health-event-news.vporoom.com/AvellinoLabs-ASCRS.

The multicenter study will be conducted at up to 25 investigational sites in the United States and Canada and 20,000 subjects will be enrolled. The study population will be representative of individuals likely to undergo refractive surgery in North America. A buccal swab sample will be obtained from each subject using the Avellino Universal Test genotyping kit. The study will determine if each enrolled individual demonstrates a mutation associated with one of the five TGFBI dystrophies: granular corneal dystrophy type 1, granular corneal dystrophy type 2, lattice corneal dystrophy type 1, Reis-Bucklers corneal dystrophy, and Thiel Behnke corneal dystrophy. The identification of a mutation will allow preventive action to be taken, specifically, avoidance of keratorefractive surgery.

"Avellino Labs is committed to promoting and protecting corneal health. As a part of that commitment, we have launched this epidemiological study to obtain a better understanding of the prevalence of Corneal Dystrophy in North America. Our goal is to help refractive surgeons provide the most personalized medicine available," said Gene Lee, Chairman and Founder of Avellino Labs. Prevalence of TGFBI Corneal Dystrophy is 1/870 in Korea¹ and preliminary data emerging from Japan and China appears to be similar. North American prevalence may be similar given the demographics of the population. 

Anthony Aldave, MD, who will serve as the Medical Monitor, believes that this is a crucial step in helping US refractive surgeons understand the importance of identifying disease-associated genetic variants before performing laser vision correction. Aldave states, "Neither a positive family history nor reliance on characteristic clinical features are reliable means of differentiating between inherited and non-inherited corneal disorders. Molecular genetic analysis is the most definitive means of distinguishing between the two." Gene Lee added, "DNA is the next frontier of medicine and we must adopt this technology sooner rather than later."

Enrollment has begun and preliminary results could be available as early as Q1 2017.

To learn more please visit http://www.avellinolab.com/us/.

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[1] Jae Hwan Lee, Stephen M. Cristol, Woon Cho Kim, Eui Sang Chung, Hungwon Tchah, Man Soo Kim, Chung Mo Nam, Hyun-Soo Cho, and Eung Kweon Kim, Prevalence of Granular Corneal Dystrophy Type (Avellino Corneal Dystrophy) in the Korean Population. Ophthalmic Epidemiology, 17(3), 160–165, 2010

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SOURCE Avellino Labs