Health & Well-Being

FDA Approves Gene Therapy for Rare Mutation

Dec 21, 2017

FDA Approves Gene Therapy for Rare Mutation

The first gene therapy for a rare inherited retinal disease has been approved.  The treatment is specific to the RPE65 gene mutation which causes progressive vision loss in children and adults, resulting in legal blindness, and sometimes even total blindness.

The therapy, brand name Luxturna, is approved for a small group, approximately 1,000 to 2,000 patients in the US. It consists of the injection into each eye with a normal correcting RPE65 gene. The cost of this treatment expected to be in the high six figures.

The hope is, this progress potentially opens a door to treatments for many more gene mutations causing inherited retinal diseases and progressive vision loss.

Here is the United States Food & Drug Administration’s bulletin:

The U.S. Food and Drug Administration today approved Luxturna (voretigene neparvovec-rzyl), a new gene therapy, to treat children and adult patients with an inherited form of vision loss that may result in blindness. Luxturna is the first directly administered gene therapy approved in the U.S. that targets a disease caused by mutations in a specific gene.

“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.”

To read more please continue to the FDA’s bulletin here 

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About the Author: Dorrie Rush

Dorrie Rush is the Chief Content Officer and Visual Accessibility Expert at Ophthalmic Edge Patients (OE Patients), an online resource, presented by the Association for Macular Diseases, providing practical information and empowering advice for living a full and successful life with vision loss.

She is the former Director of the Grunwald Technology Center and Information Resource Service at Lighthouse International 2001 to 2016. Dorrie is known to have an eccentric view, which is particularly useful in compensating for her central vision loss from Stargardt Disease.



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