Luxturna is a single injection that works by delivering 150 billion viral vector particles containing a correct copy of the RP65 gene to retinal cells, restoring the patient's ability to make the missing enzyme.
Federal health officials have approved the nation's first gene therapy for an inherited disease, a treatment that improves the sight of patients with a rare form of blindness.
The FDA Wednesday approved Spark Therapeutics Inc.'s voretigene neparvovec-rzyl (Luxturna), the first gene therapy for inherited vision loss caused by faulty gene mutations.
It's the first gene therapy approved in the United States for a disease caused by mutations in a specific gene, and only the third gene therapy ever approved. The condition affects between 1,000 and 2,000 people in the United States.
Spark said Tuesday that it won't be releasing the price until early next year. As reported by the Associated Press, Lovelace, from Kentucky, was among several patients urging the FDA to approve the treatment. "Spanning the course of ten years, the research conducted at CHOP's Center for Cellular and Molecular Therapies laid the groundwork for this revolutionary gene therapy". High was joined by Jean Bennett, MD, PhD, F.M. Kirby professor of Ophthalmology at the Perelman School of Medicine at the University of Pennsylvania's Scheie Eye Institute, and Albert M. Maguire, MD, a professor of Ophthalmology at Penn Medicine and an attending physician at CHOP, who served as a Principal Investigator of the therapy's clinical trials.
Next year the agency plans to issue guidance documents that will provide instructions for companies developing gene therapies for specific diseases, including "more efficient parameters" than now exist. "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".
In the Phase 3 study, 27 of 29 treated patients had meaningful improvement in their ability to see, according to the Lancet report. The most common adverse reactions from treatment with Luxturna included eye redness (conjunctival hyperemia), cataract, increased intraocular pressure, and retinal tear. So we can guess at why Spark didn't release theirs: the cost of this treatment is likely to be mind-boggling. Those results confirmed more than a decade's worth of research. "I believe gene therapy will become a mainstay in treating, and maybe curing, many of our most devastating and intractable illnesses", he noted.
"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", Gottlieb noted. FDA Commissioner Scott Gottlieb said in a statement.