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AGTC Inc receives US FDA orphan designation of experimental gene therapy treatment for achromatopsia

Applied Genetic Technologies Corp. (NASDAQ: AGTC), a gene therapy company based in Gainesville, Florida, has announced the receipt of orphan drug designation from the U.S. Food and Drug Administration (FDA) for its gene therapy product candidate to treat achromatopsia, a disorder arising from mutations in the CNGA3 gene. AGTC is developing products for achromatopsia based on mutations in the CNGA3 and CNGB3 genes. The company previously announced the grant of orphan designation for the same indication from the European Medicines Agency (EMA). Recent research studies by collaborators in animal models of achromatopsia showed that delivery of an AAV vector carrying a functional copy of the CNGA3 gene was capable of restoring vision, as measured by the ability of treated animals to navigate an obstacle maze.


Achromatopsia is a genetic disorder that leaves most patients legally blind with an inability to discriminate colours and extreme light sensitivity resulting in daytime blindness. There are no current treatments available for the disorder and it is estimated that there are 22,000 patients in the US and Europe suffering from this disease. The company aims to use adeno-associated viral (AAV) vectors to deliver healthy copies of the ACHM gene to photoreceptors. A second ophthalmic indication pursued by the company, X-Linked Rentinoschisis, causes juvenile macular degeneration in males and is caused by mutations in the RS1 gene. Symptoms typically manifest between the ages of 5 and 10 years and, similar to ACHM, there are no current treatment options available for XLRS. 35,000 patients in the US and Europe are estimated to suffer from this disease.


AGTC, based in Gainseville, Florida was founded in 2001 by leading AAV scientists at the University of Florida. The company secured rights to a broad portfolio of IP assets focused on the use of AAV vectors for gene therapy applications. The company claims to have licenses to over 40 US and foreign patents and, prior to its IPO in April 2014, had raised over $45M in venture financing. At IPO, the company raised just over $50 million on the US NASDAQ, selling 4.2 million shares at $12 per share valuing the company at $160.7 million. As of Dec 3rd, 2015, the market cap of the company was just under $309M. Commenting on the regultory milestone Sue Washer, President and CEO of AGTC stated, “[r]eceiving U.S. Orphan Drug designation is another significant milestone as we continue to advance our pipeline of novel gene therapies to treat rare inherited eye disorders. Patients with achromatopsia have severely impaired vision from birth. Current treatment options are limited to management of the discomfort of photophobia, or day blindness, but there is no available therapy that provides improvement of visual acuity. Evidence in animal models suggests that our gene therapy candidate, delivered as a one-time injection, has the potential to provide long-lasting vision improvement in patients affected by this condition.”