FDA Approves First Gene Therapy to Treat Rare Inherited Vision Loss
“Today’s approval marks another first in the field of gene therapy — both in how the therapy works and in expanding the use of gene therapy beyond the treatment of cancer to the treatment of vision loss — and this milestone reinforces the potential of this breakthrough approach in treating a wide-range of challenging diseases. The culmination of decades of research has resulted in three gene therapy approvals this year for patients with serious and rare diseases. I believe gene therapy will become a mainstay in treating, and maybe curing, many of our most devastating and intractable illnesses,” said FDA Commissioner Scott Gottlieb, M.D.
“We’re at a turning point when it comes to this novel form of therapy and at the FDA, we’re focused on establishing the right policy framework to capitalize on this scientific opening. Next year, we’ll begin issuing a suite of disease-specific guidance documents on the development of specific gene therapy products to lay out modern and more efficient parameters — including new clinical measures — for the evaluation and review of gene therapy for different high-priority diseases where the platform is being targeted.”
The Food
and Drug Administration has now approved Spark Therapeutics’ Luxturna, the first directly administered gene therapy approved in the U.S. that targets a disease caused by mutations in a specific gene- Leber congenital amaurosis.It is the first FDA-approved gene therapy for a genetic disease, the first and only pharmacologic treatment for an inherited retinal disease (IRD) and the first adeno-associated virus (AAV) vector gene therapy approved in the U.S.
Luxturna is a gene therapy that’s directly administered to patients who have a condition called biallelic RPE65 mutation-associated retinal dystrophy. The disorder is caused by defects in a gene which helps produce a protein critical to normal vision. With Luxturna, a healthy copy of the gene is inserted into retinal cells (with the help of engineered viruses) in order to produce the necessary protein and restore vision.
The defective gene that causes the disease can be passed down for generations undetected before suddenly appearing when a child inherits a copy from both parents. Only a few thousand people in the U.S. are thought to have the condition.
Luxturna is delivered via two injections — one for each eye — that replace the defective gene that prevents the retina, tissue at the back of the eye, from converting light into electronic signals sent to the brain.
The Philadelphia-based Spark Therapeutics said it will announce its price in early January, but suggested its own analysis put the value of the therapy in the $1-million-dollar range. Key to the company’s reasoning is the assumption that Luxturna will be given once, with lasting benefits.
“This approval is a watershed milestone,” said Benjamin Yerxa, Ph.D., chief executive officer at the Foundation Fighting Blindness (FFB), a nonprofit organization focused on research for preventing and treating blindness caused by IRDs. “For people with an inherited retinal disease and for other patient communities, this decision may create important momentum for investigational gene therapies. The Foundation is very pleased that our early investments in research have helped lead to the approval of Luxturna. And we encourage patients to get genetic testing so they can help advance the research and possibly benefit from this treatment or other gene treatments as they emerge.”
