FDA approves first ever gene therapy for rare eye disease!

Share Button


The Curing Retinal Blindness Foundation Joins the Rare Eye Disease Community in Celebrating the First Ever FDA Approved Treatment for Blindness

December 19, 2017 Bucks County, PA – The Curing Retinal Blindness Foundation is proud to be a part of this historic day today as Spark Therapeutics (NASDAQ:ONCE), a fully integrated gene therapy company dedicated to challenging the inevitability of genetic disease, announced that the U.S. Food and Drug Administration (FDA) has approved LUXTURNA™ (voretigene neparvovec-rzyl), a one-time gene therapy product indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy. LUXTURNA should only be administered to patients with mutations on both copies of the RPE65 gene who have sufficient viable retinal cells as determined by their treating physicians.

LUXTURNA 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.

“During the more than 12 years of innovative research with dedicated collaborators near and far, I’ve witnessed the dramatic improvement in vision in many patients who would have otherwise lost their sight,” said Jean Bennett, the F.M. Kirby Professor of Ophthalmology in the Perelman School of Medicine at the University of Pennsylvania and Penn’s Scheie Eye Institute. “I believe that the success of the LUXTURNA clinical development program will pave the way for the development of other gene therapies, that may help the millions of patients with genetic diseases who currently have limited or no treatment options.”

“The FDA approval of Luxturna just gave patients living with rare eye disease more than hope – it has given them a concrete example that treating blindness is possible and effective,” said Kristin Smedley, President and Co-Founder of the Curing Retinal Blindness Foundation. “The decades long timeline from basic research to this approval day is proof that hope can indeed carry you a long way.”


About Gene Therapy
Gene therapy is an approach to treat or prevent genetic disease by seeking to augment, replace or suppress one or more mutated genes with functional copies. It addresses the root cause of an inherited disease by enabling the body to produce a protein or proteins necessary to restore health or to stop making a harmful protein or proteins, with the potential of bringing back function in the diseased cells and/or slowing disease progression. To deliver the functional gene into the cell, a vector is used to transport the desired gene and is delivered either intravenously or injected into specific tissue. The goal is to enable, through the one-time administration of gene therapy, a lasting therapeutic effect.

About Spark Therapeutics 
At Spark Therapeutics, a fully integrated company committed to discovering, developing and delivering gene therapies, we challenge the inevitability of genetic diseases, including blindness, hemophilia and neurodegenerative diseases. We have successfully applied our technology in the first FDA-approved gene therapy in the U.S. for a genetic disease, and currently have three programs in clinical trials, including product candidates that have shown promising early results in patients with hemophilia. At Spark, we see the path to a world where no life is limited by genetic disease. For more information, visit www.sparktx.com

.About Curing Retinal Blindness Foundation (CRBF)

The CRBF is a 501(c)(3) organization dedicated to funding research to promote treatments and cures for CRB1 degenerative retinal disease and connecting patients to resources for living with blindness.  The children in this foundation are blind or visually impaired due to mutations in the CRB1 gene causing a rare genetic disease, a degenerative retinal disease (Leber’s Congenital Amaurosis, Retinitis Pigmentosa, or cone-rod dystrophy) Some of the children have already lost almost 100% of their sight. Many of the children still have some useable vision, but it will deteriorate if nothing is done to stop the degeneration.


Kristin Smedley




facebook feed

twitter feed