Sofia Sees Hope Lauds FDA Approval of LUXTURNA™

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LUXTURNA™ (voretigene neparvovec), is the first pharmacologic treatment for inherited retinal disease and the first gene therapy for a genetic disease in the US

Ledyard, CT (Dec. 19, 2017) — Sofia Sees Hope, a patient advocacy organization dedicated to transforming the lives of those affected by blindness caused by rare inherited retinal diseases (IRD), applauds the U.S. Food and Drug Administration’s Dec. 19 approval of LUXTURNA™, the first gene therapy for a genetic disease in the United States.

Spark Therapeutics’ LUXTURNA™ (voretigene neparvovec) is a potential one-time gene therapy for the treatment of patients with vision loss due to confirmed biallelic RPE65-mediated inherited retinal dystrophies. The RPE65 gene mutation is within the Leber congenital amaurosis (LCA) family of inherited gene mutations that eventually lead to total blindness.

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.

In October, SSH co-founder Laura Manfre testified before the FDA’s Cellular, Tissue and Gene Therapies Advisory Committee (CTGTAC), representing patients and families living with LCA and other rare inherited retinal diseases. She shared with the committee one RPE65 patient’s successful treatment with the therapy, and how her life had changed with the return of much of her vision. The committee voted unanimously to recommend approval of voretigene neparvovec by the FDA, after a day of scrutinizing the safety and effectiveness of the biologics license application submitted by Spark Therapeutics, Inc.

“This is a huge day for RPE65 patients, and indeed for everyone in the LCA and IRD communities,” Manfre noted. “While this first treatment does not address the dozens of other genetic mutations that cause blindness for LCA and IRD individuals, we can hope that this will in turn pave the way for continued research and treatment for our entire LCA and rare IRD community. This marks another positive step forward on the path to changing the lives for many people.”

According to Sparks’ press release issued today, “The gene therapy will be administered at selected treatment centers in the U.S. by leading retinal surgeons, who will receive surgical training provided by Spark Therapeutics on the administration procedure. LUXTURNA™ is expected to be available for administration in these treatment centers late in the first quarter of 2018. Spark Therapeutics is committed to ensuring eligible patients have access to LUXTURNA™. More details on the company’s patient support programs, its commitment to access, and the price of the product will be shared in early January.”

Manfre added that Sofia Sees Hope will expand its outreach and support programs in the new year to provide information for patients and their families about what happens now for the RPE65 population as well as other genetic mutations and the large still-undiagnosed population. Plans currently include access to free genetic testing programs, supporting family connections and continued education and awareness. 

“As an advocacy and education organization, we will be providing information on our website and social media channels,” Manfre said.  “We are also pleased with the patient support Spark is providing to the RPE65 community.”

For people with IRDs, Spark Therapeutics will offer access to genetic testing designed to identify biallelic RPE65 mutations. More information about the program and eligibility requirements will be available at www.luxturna.com.

Spark has established Spark Therapeutics Generation Patient Services to support appropriate patients, their families and providers in the U.S. through the LUXTURNA™ treatment experience. The team at Spark Therapeutics Generation Patient Services will assist eligible and enrolled patients navigate the insurance process and provide options to support travel and logistics to and from treatment centers.

For patients who are underinsured or are insured through government programs like Medicare and Medicaid, Spark plans to support independent Patient Assistance Programs that may help cover their drug and treatment costs.

LUXTURNA™ has received the FDA’s orphan drug, breakthrough therapy, and rare pediatric disease designations—as well as orphan designations in the EU, where the European Medicines Agency is reviewing Spark’s Marketing Authorization Application for the gene therapy, an application validated in August.

High-res images for download

Image of LUXTURNA (voretigene neparvovec-rzyl) product vial. Spark Therapeutics, Inc. Image of LUXTURNA (voretigene neparvovec-rzyl) product vial. Spark Therapeutics, Inc.

Read more

Spark Therapeutics press release

FDA press release

About Sofia Sees Hope

Sofia Sees Hope was founded in 2014  by Laura Manfre and Charles Priebe, whose daughter Sofia has Leber congenital amaurosis (LCA). This rare degenerative genetic condition is characterized by severe vision loss at birth and leads to total blindness.

The mission of Sofia Sees Hope is to transform the lives of those affected by blindness caused by rare inherited retinal disease. The nonprofit organization generates awareness, raises funds for research, and provides outreach, support and education to those affected by LCA and other rare retinal diseases.

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