A new FDA-approved gene therapy treatment for patients with an inherited form of vision loss is now available at Baylor College of Medicine. The therapy, LUXTURNA™ (voretigene neparvovec-rzyl), was developed by Spark Therapeutics.

Baylor is one of seven institutions in the world offering the new treatment for patients with a blinding retinal condition caused by an inherited loss of both RPE65 genes. Patients with RPE65 deficiency start to lose their vision in the first 5 years of life, and it gets progressively worse as they age—often leading to blindness within the first two decades of life.

“This treatment offers the potential to improve the ability to see for patients who were losing their eyesight,” said Dr. Tim Stout, chair of ophthalmology and director of the Cullen Eye Institute at Baylor. “Patients who undergo this gene therapy typically begin to see benefits within 4 weeks after their outpatient surgery, and we believe that one treatment lasts a lifetime.”

During the treatment, doctors surgically deliver a harmless virus that contains a normal copy of the RPE65 gene beneath the retina of affected patients. “The virus infects the diseased cells in the back of the eye, and they start making the missing protein. It was remarkably effective in clinical trials,” Stout said.

Stout added that in his experience during the clinical trials this treatment worked best in younger patients who were under 12 years of age, but that patients of all ages can benefit from it.

Luxturna is the first gene therapy drug for a genetic condition that has been approved in the United States. It is for any patient with confirmed biallelic RPE65 mutation-associated retinal dystrophy who have sufficient viable retinal cells. Baylor College of Medicine is the only site in Texas able to treat patients with Luxturna. Other gene therapies are being tested for eight additional retinal genetic diseases.

“The exciting thing about this is that it shows gene therapy works,” Stout said. “Genetic defects, at least in the eye, can be reversed by gene therapy. We’re looking forward to seeing how gene therapy may be applied to other genetic retinal conditions that cause vision loss.”

Stout will treat his first patient with RPE65 deficiency within the next few months.