Applied Genetic Technologies Corporation (AGTC), a biotechnology company, announced that the European Medicines Agency (EMA) has granted an orphan drug designation to its investigational gene therapy product for the treatment of achromatopsia caused by mutations in the CNGA3 gene.

AGTC is developing products for achromatopsia based on mutations in the CNGB3 and CNGA3 genes, which together account for 75 per cent of the total achromatopsia patient population. The company has demonstrated proof-of-concept in a naturally occurring dog model of the CNGB3 form of the disease, and previously received orphan drug designation from the US Food and Drug Administration and the EMA for its investigational gene therapy product for the treatment of achromatopsia caused by mutations in the CNGB3 gene. More recent studies conducted by AGTC's collaborators showed that in sheep affected by achromatopsia caused by mutations in the CNGA3 gene, delivery of an AAV vector carrying a normal copy of CNGA3 restored vision as measured by the ability to navigate an obstacle maze.

"Receiving EU orphan drug designation is an important milestone that delivers significant commercial benefits to our company as we advance our innovative portfolio of gene therapy products that allow a patient's own body to treat their rare eye disorders," said Sue Washer, president and CEO of AGTC.

"There is an enormous unmet need for effective treatment options for patients with achromatopsia, and we believe that our approach, delivered as a single injection into the eye, has the potential to provide long-lasting treatment, leading to a better quality of life for patients worldwide."

Orphan medicinal product designation is granted by the European Commission, following a positive opinion from the Directorate-General for Competition (COMP), to a medicinal product that is intended for the diagnosis, prevention or treatment of a life-threatening or a chronically debilitating condition affecting not more than five in 10,000 persons in the community when the application for designation is submitted. An orphan designation allows a pharmaceutical company to benefit from incentives from the European Union to develop a medicine for a rare disease, such as reduced fees and protection from competition once the medicine is placed on the market.

Achromatopsia is an inherited retinal disease, which is present from birth and is characterized by the lack of cone photoreceptor function. The condition results in markedly reduced visual acuity, extreme light sensitivity causing day blindness, and complete loss of color discrimination. Best-corrected visual acuity in persons affected by achromatopsia, even under subdued light conditions, is usually about 20/200, a level at which people are considered legally blind. The incidence rate for achromatopsia is approximately one in 30,000 people, and it is estimated that there are approximately 10,000 people in the United States and 17,000 people in Europe with achromatopsia.