Fighting Blindness welcomes the landmark and historic approval of the first gene therapy for the eye and inherited retinal disease.

On Tuesday 19th December, the U.S. Food and Drug Administration (FDA) announced the landmark approval of LUXTURNA™, an innovative one-time gene therapy that targets a disease caused by mutations in a specific inherited retinal degeneration gene. 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.

Inherited retinal degenerations (IRDs) are some of the most complicated of all genetic conditions, involving more than 260 genes. Collectively they represent the most frequent cause of visual dysfunction in those of working age and as such have a highly significant impact on quality of life and health economics.

How does LUXTURNA™ work?
The gene therapy, LUXTURNA™, has been approved to treat patients with a confirmed biallelic RPE65 mutation-associated retinal dystrophy, of which there are approximately 1,000 to 2,000 patients affected in the U.S. The term biallelic means that the individual carries a mutation in both copies of the RPE65 gene (a paternal and a maternal mutation). These individuals experience progressive deterioration of vision over time. This loss of vision, often during childhood or adolescence, ultimately progresses to complete blindness.

The RPE65 gene provides instructions for making an enzyme (a protein that facilitates chemical reactions) that is essential for normal vision. Mutations in the RPE65 gene lead to reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision.

LUXTURNA™ works by delivering a normal copy of the RPE65 gene directly to retinal cells. For patients to benefit from the therapy, they must also have enough remaining cells in the retina (the thin layer of tissue in the back of the eyes) as determined by a healthcare professional. These retinal cells then produce the normal protein that converts light to an electrical signal in the retina, thereby stopping further vision loss and restoring some functional vision. LUXTURNA™ uses a naturally occurring adeno-associated virus (which has been modified and rendered harmless) as a vehicle to deliver the normal human RPE65 gene to the retinal cells to restore vision.

Reflections on reaching this significant milestone
What we have observed today, demonstrates the significant progress in research and development over the past decade. Proof-of-concept gene therapies have moved from bench to bedside; hope has turned into a reality.

Prof Brendan Buckley, Chair of Fighting Blindness stated “This is a major step forward towards curing inherited retinal degenerations. While there are just a small number of individuals in Ireland with the specific gene suitable for this treatment, we look forward to a much wider range of treatments for other gene disorders in the eye over the next few years.
Fighting Blindness is recognized internationally as having been an important force in promoting and research in inherited eye diseases. For many years we have used money raised from a generous public to fund our academic collaborators in TCD and they have made key discoveries that have enabled this new treatment. We now face the challenge of preparing Ireland’s health system to devise equitable means of making treatments like this available to those who need them.

“On behalf of our community we wish to acknowledge this wonderful day which for so long has been aspirational and now has become realisable. Congratulations to all who have made this happen, Foundation Fighting Blindness, Spark Technologies and the research community who have devoted their expertise to creating this reality. While this is hugely encouraging, and leaves the way open for more treatments of this kind to be developed we must be cautious in its welcome,” added Kevin Whelan, CEO, Fighting Blindness. “The treatment has not yet been approved by the European Medicines Agency (EMA) and therefore not yet approved for use in Ireland. Even when that hurdle is cleared, it will have to be assessed for reimbursement through the HSE. Nonetheless, this is a huge step in the right direction and one in an area that Fighting Blindness believe will help many here and worldwide.”

Dr Laura Brady, Research Manager at Fighting Blindness shared “This is a monumental day for our community and is a prime example of how the power of patient involvement and engagement can make a real impact in the development of therapies. Today’s announcement by the FDA, echoes sentiments at our recent Retina conference where IRDs were described as becoming ‘Actionable diseases’. This is the first gene therapy approved in the US and Fighting Blindness is hopeful this will be followed by approval in Europe in the very near future.”

Christina Fasser, President of Retina International stated “With today’s announcement people affected by inherited retinal dystrophies and those who support them are entering an exciting and hopeful new era in the development of treatments. We extend our deep congratulations to all of those involved in bringing LUXTURNA™ to this stage, a journey lasting many decades and the result of true partnership between researchers, clinicians and patients. We stand together today as a community more confident than ever that in the near future all patients affected by these conditions will have access to life changing therapies”.

Fighting Blindness greatly understand the importance this announcement holds for those living with sight loss in Ireland. In July of this year, Spark Therapeutics submitted a Marketing Authorization Application (MAA) to the European Medicines Agency (EMA) for LUXTURNA™. Once EMA has validated the application, the review period will begin. Fighting Blindness will watch closely what takes place at a European level and will keep our members and supporters fully informed of any further developments.

For more information please contact research@fightingblindness.ie.

FDA Announcement:
https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm589467.htm 

Spark Therapeutics:
http://ir.sparktx.com/news-releases/news-release-details/fda-approves-spark-therapeutics-luxturnatm-voretigene-neparvovec

Retina International:
http://www.retina-international.org/retina-international-welcomes-us-food-and-drug-administration-approval-luxturna-treatment-rpe65

Foundation Fighting Blindness:
http://www.blindness.org/press-releases/foundation-fighting-blindness-celebrates-historic-fda-approval-first-gene-therapy