Blue Cone Monochromacy Gene Therapy Gets Orphan Drug Designation

This content originally appeared on our sister site, Ophthalmology Times.

The FDA has granted orphan drug designation to Adverum Biotechnologies' ADVM-062 (AAV.7m8-L-opsin). The novel gene therapy product candidate is being developed as a potential single intravitreal (IVT) administration for blue cone monochromacy (BCM) by delivering a functional copy of the OPN1LW gene.

Adverum is excited to introduce ADVM-062, which builds on its ophthalmology and gene therapy expertise to address the significant unmet medical needs of patients living with blue cone monochromacy, according to Laurent Fischer, MD, president and chief executive officer, Adverum Biotechnologies.

“We are pleased the FDA has recognized the patient need by granting Orphan Drug Designation and we look forward to advancing ADVM-062 towards the clinic and generating important data,” Fischer said in a statement.

According to the company, BCM affects approximately 1 to 9 in 100,000 males, worldwide. This X-linked recessive hereditary condition is caused by mutations in either the L or the M opsin gene(s) and can manifest in loss of visual acuity, photophobia, myopia and infantile nystagmus that can persist into adulthood.

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As a result, individuals with BCM have visual impairments to important aspects of daily living such as facial recognition, learning, reading, and daylight vision. Currently, there is no cure for BCM.

Orphan drug designation is granted by the FDA to novel drugs and biologics, which are defined as those intended for the safe and effective treatment, diagnosis or prevention of rare diseases or disorders that affect fewer than 200,000 people in the United States. The designation provides incentives for sponsors to develop products for rare diseases, which may include tax credits towards the cost of clinical trials and prescription drug user fee waivers.

According to the company, the orphan drug designation also could entitle Adverum Biotechnologies to a seven-year period of marketing exclusivity in the United States for ADVM-062 should the company receive FDA approval for the treatment of BCM for this product candidate.

Anticipated Milestones

According to the company, it hopes to present preclinical data supporting proof of concept of ADVM-062 in during the first half of 2022.

The company also plans on submitting an Investigational New Drug (IND) application by year-end 2022.

About ADVM-062 Gene Therapy

ADVM-062 is a gene therapy candidate specifically designed to deliver a functional copy of the OPN1LW gene to the foveal cones of patients suffering from BCM via a single IVT injection. ADVM-062 utilizes Adverum’s propriety vector capsid, AAV.7m8.