Days before Christmas, the U.S. Food and Drug Administration approved a gene therapy initially developed by researchers at Penn and Children’s Hospital of Philadelphia (CHOP) for the treatment of a rare, inherited form of retinal blindness. The decision marks the nation’s first gene therapy approved for the treatment of a genetic disease, and the first in which a new, corrective gene is injected directly into a patient.
The therapy, known as LUXTURNA™ significantly improves eyesight in patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy, an inherited form of blindness whose sufferers lose their sight by mid-life. The foundational research was conducted by married couple and research collaborators Jean Bennett, MD, PhD, of Ophthalmology, and Albert M. Maguire, MD, of Ophthalmology, who served as the principal investigator of the clinical trials which led to the FDA approval.
The one-time therapy delivers corrected versions of the RPE65 gene using a genetically engineered, benign adeno-associated virus to carry the genes to the retina. Within weeks, a patient’s vision can begin to improve. Many of them are now doing activities that seemed impossible before, such as reading the chalkboard, taking driver’s license tests, and recognizing people’s faces.
Read more about this breakthrough here.