“Gene editing” may sound like the latest buzzword to light up the healthcare arena, but for some children with severely reduced quality of life due to an inherited vision disorder, it may be the solution they’ve been waiting for. Optometrists didn’t need a study to tell them that childhood vision impairments have a significant negative impact on health-related quality of life, but the literature does show such research, as reported by children themselves and their parents.1 But with a new gene therapy product candidate, AAV-CNGA3 (MeiraGTx), being granted a “rare pediatric disease designation,” those children suffering from at least one condition may have a way to improve those statistics.2

The treatment under investigation takes aim at repairing mutations to the CNGA3 gene, which causes most cases of achromatopsia (ACHM), a retinal condition characterized by a partial or total absence of color vision.2,3 It is also associated with photophobia, nystagmus, low acuity and hyperopia—as well as, in rare cases, myopia.3 Many of these patients are legally blind from birth.2 The genetic mutation that leads to ACHM essentially prevents cone photoreceptors in the eye from functioning. The AAV-CNGA3 therapy, which is delivered to the back of the eye via subretinal injection, is designed to restore that cone function.

As it stands, no treatments for ACHM exist. With this new rare pediatric disease designation, the therapy may be eligible to receive a “priority review” from the FDA. 

1. DeCarlo D, McGwim G, Bixler M, et al. Impact of pediatric vision impairment on daily life: results of focus groups. Optom Vis Sci. 2012;89(9):1409-16.

2. MeriaGTx. Meiragtx announces AAV-CNGA3 granted rare pediatric disease designation by the U.S. FDA for the treatment of achromatopsia. https://meiragtx.gcs-web.com/node/6681 August 27, 2018. Accessed August 29, 2018.

3. US National Library of Medicine. Achromatopsia. ghr.nlm.nih.gov/condition/achromatopsia. August 28, 2018.  Accessed August 29, 2018.