Written by: Leah Glenn
Media contact: Adam Pope
The University of Alabama at Birmingham Callahan Eye Hospital has been named one of the newest sites for Spark® Therapeutics’ LUXTURNA® (voretigene neparvovec-rzyl), the first FDA-approved gene therapy treatment for a genetic disease.
It is a prescription gene therapy used for the treatment of patients with inherited retinal disease due to mutations in both copies of the RPE65 gene, which can only be confirmed through genetic testing. Patients must have viable retinal cells as determined by the treating physicians.
Leber Congenital Amaurosis (LCA) is one retinal degenerative condition and a leading cause of genetic blindness in children. Patients with LCA start to lose their vision in the first five years of life, and it gets progressively worse as they age. Most patients are considered legally blind due to the profound vision loss it causes.
One subtype is caused by inherited mutations in both copies of the RPE65 gene. When patients have mutations in both of copies of their RPE65 gene, the normal visual cycle cannot take place, and retinal cells die over time.
LUXTURNA uses a non-disease-causing virus to deliver a normal copy of the RPE65 gene to retinal cells, enabling them to make proteins that have the potential to make the visual cycle work properly again.
