The FDA just approved the first gene therapy to treat blindness

Henrietta Brewer
December 20, 2017

On Tuesday, the U.S. Food and Drug Administration approved a breakthrough genetic therapy for a heredity condition that causes blindness.

FDA commissioner Scott Gottlieb said: "I believe gene therapy will become a mainstay in treating, and maybe curing, many of our most devastating and intractable illnesses".

"There are more than 250 genes involved in vision and we hope that this may pave the way for the development of treatment for other inherited retinal diseases/causes of congenital blindness".

"Without this gene therapy, they will eventually go blind", New Holland resident Sam Beiler said of his daughters age 16 and 4. Analysts estimate Luxturna could cost as much as $1 million per patient.

The treatment, if approved, likely won't be cheap. The treatment restores vision by delivering working copies of the RPE65 gene directly into the retina, thereby compensating for the nonfunctional, mutated genes.


Luxturna is the third gene therapy approved by the FDA. A faulty one can make the gene less active or inactive, leading to impaired vision and even complete blindness.

The approval marks the latest development in the rapidly moving field of gene therapy, which for years was mired in disappointments and disasters.

The disorders are broadly grouped together and known as biallelic RPE65 mutation-associated retinal dystrophy.

The FDA has more about this approval.

Gene therapy in general aims to treat disease by manipulating genes at a cellular level. In a 31-patient Phase 3 study, patients who received the Spark treatment were evaluated on their ability to navigate an obstacle course in varying light levels.


Common adverse reactions associated with voretigene neparvovec-rzyl include eye redness, cataract, increased intraocular pressure, and retinal tear. "I would give anything to have what I have now compared with what I had before - it is a million times better", she said in the interview in October.

LUXTURNA is the result of more than two decades of research and development at the University of Florida, the University of Pennsylvania, Children's Hospital of Philadelphia, and Spark Therapeutics.

Yet it will also test the healthcare system's ability to pay for these types of scientific advances, as Luxturna is expected to come with a steep price tag.

In previous interviews with Xconomy, Marrazzo has expressed concern that the market is not providing drug makers the right incentives to develop one-time treatments.

The Foundation Fighting Blindness' chief research officer, Dr Stephen Rose told pharmaphorum a few weeks ago that Spark's success will only encourage more activity in this field.


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