On December 19, 2017, the US FDA approved a new gene therapy to treat children and adults with a genetic condition that often results in blindness. Spark Therapeutics’ Luxturna (voretigene neparvovec-rzyl) is a one-time gene therapy product that treats biallelic RPE65 mutation-associated retinal dystrophy, an inherited retinal disease that frequently progresses to complete blindness. Approval of this product marks the first US approval of a gene therapy for a hereditary genetic disease. Luxturna is also the first and only pharmacologic treatment for an inherited retinal disease and the first adeno-associated virus (AAV) vector gene therapy approved in the U.S.
Inherited retinal diseases are a group of rare blinding conditions associated with progressive visual dysfunction and caused by mutations in any one of more than 220 different genes. Luxturna specifically targets biallelic RPE65 mutation-associated retinal dystrophy, which affects approximately 1,000 to 2,000 patients in the US. Luxturna works by delivering a normal copy of the RPE65 gene directly to retinal cells, using a naturally-occurring adeno-associated virus. With the normal human RPE65 gene, retinal cells can then produce the normal protein that converts light to an electrical signal in the retina to restore vision.
“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 in a news release.
In response to the approval, Spark Therapeutics Chief Executive Officer Jeffrey D. Marrazzo said, “Today’s landmark approval of Luxturna is a moment decades in the making for the field of gene therapy, the inherited retinal disease (IRD) community, and most importantly, patients with biallelic RPE65 mutation-associated retinal dystrophy who now have the option to seek treatment. This one-time gene therapy for an inherited disease represents a first-of-its-kind breakthrough that may lay the groundwork for the development of gene therapies for other conditions that are not adequately addressed today. We offer our sincere gratitude to the patients and their families as well as the expert investigators who continue to participate in Luxturna’s clinical development program.”
The approval of Luxturna is the latest development in the rapidly-moving field of gene therapy. Earlier this year, the FDA approved Kymriah to treat leukemia and Yescarta to treat lymphoma. With three gene therapies available in the US, Gottlieb said, “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.”