In the United States, Orphan Drug designation is granted to drugs or biologics intended to treat, diagnose, or prevent rare diseases. For the purpose of this status, “rare” conditions are defined as those affecting 200,000 Americans or fewer. As an incentive, drug developers receive, alongside this status, fee waivers, tax credits, increased regulatory assistance, and 7 years market exclusivity upon approval. According to a news release from January 4, 2022, the FDA recently granted Orphan Drug designation to ADVM-062 as a treatment for blue cone monochromacy (BCM), a rare genetic disorder.
About ADVM-062
ADVM-062 is a novel gene therapy solution developed by gene therapy company Adverum Biotechnologies (“Adverum”). The treatment uses an AAV.7m8 vector and is administered intravitreally.
So how does it work? ADVM-062 works by delivering a functional OPN1LW gene to patients. The gene is delivered directly to foveal cones. Altogether, the therapy can be administered in a singular injection, making treatment more efficient and approachable.
Additionally, there are currently no cures for BCM. Thus, ADVM-062 has the potential to greatly change outcomes for these patients by fulfilling a major unmet need.
To see some of the preclinical findings for ADVM-062, take a look here.
Blue Cone Monochromacy (BCM)
Blue cone monochromacy (BCM), or blue cone monochromatism, is a rare, X-linked disorder which primarily affects males. An estimated 1 out of every 100,000 men has BCM. OPN1LW or OPN1MW gene mutations cause BCM. According to the Genetic and Rare Diseases Information Center:
There are three types of cones [in the retina] that respond to one of three colors: red, green, and blue. When people have blue cone monochromatism, both the red and green cones do not function properly, while the blue cones work normally.
As a result of BCM, patients experience symptoms such as:
- Loss of visual acuity
- Nystagmus (involuntary eye movements) in infancy which may last into adulthood
- Extreme sensitivity to light
- Nearsightedness
- Difficulty distinguishing colors or faces
