Spark Therapeutics Launches New Initiative to Raise Awareness of the Importance of Genetic Testing for People Living with Inherited Retinal Diseases
The Eye Want 2 Know digital resource helps patients and their families in the U.S. living with an inherited retinal disease (IRD) learn about genetic testing and includes a “Find A Provider” tool to locate health care professionals who can facilitate genetic testing
Approximately 90 percent of people living with one type of IRD, retinitis pigmentosa (RP), expressed desire for genetic testing
“A confirmed genetic diagnosis opens the door to better, more specific resources for people living with inherited retinal diseases,” said Stephen Rose, Ph.D., chief scientific officer of Foundation Fighting Blindness. “Eye Want 2 Know aims to ensure the IRD community is aware of and appreciates the urgency for genetic testing, which remains a critical barrier to the widespread adoption of genetic testing within this community.”
Spark Therapeutics developed Eye Want 2 Know with input from advocates, families affected by IRDs and health care professionals. Eye Want 2 Know provides information on overcoming the barriers to genetic testing. These barriers include misinformation about the benefits and burdens of testing and the perceived challenge to find providers for genetic testing. Among the initiative’s resources is a searchable “Find a Provider” tool to connect interested patients to health care professionals across the country who can facilitate genetic testing.
“For people with a family history of IRDs, genetic testing can help you understand and prepare for your disease, even before you begin to show symptoms," said Mary Lou Johnson Evans, mother of a son living with retinitis pigmentosa (RP), an IRD. “This was essential for my son and me—to prepare for when he would lose his sight.”
Through genetic testing, those living with an IRD may obtain diagnostic clarity and pursue resources and community support specific to their IRD. Patients who obtain genetic testing results can also work with a health care professional to help decide how best to manage their specific disease and determine if they are candidates for investigational gene therapy clinical trials.
“Eye Want 2 Know supports the medical community’s quest for precise genetically based diagnoses and serves as a rallying point for genetic testing awareness, education and action,” said Paulo Falabella, M.D., medical affairs ophthalmic lead of Spark Therapeutics. “We strongly urge health care professionals to encourage and facilitate genetic testing for patients and their families with IRDs. We are committed to helping provide patients, caregivers and health care professionals access to the genetic information they need to make decisions with each patient’s future vision and health in mind.”
Learn more about the benefits of genetic testing for IRDs, locate a provider and connect with community members by declaring “Eye Want 2 Know” at www.eyewant2know.com and by sharing on social media channels using the hashtag, #EyeWant2Know.
About Inherited Retinal Diseases (IRDs)
Inherited retinal diseases (also known as inherited retinal dystrophies, or IRDs) are a group of rare eye disorders caused by various inherited gene mutations and can result in progressive vision loss or total blindness. In total, more than 220 genes have been linked to IRDs. Common IRDs include choroideremia (CHM), Leber congenital amaurosis (LCA), cone-rod dystrophy (CRD), juvenile macular degeneration (JMD) and retinitis pigmentosa (RP).
About Spark Therapeutics
At Spark Therapeutics, a fully integrated, commercial company committed to discovering, developing and delivering gene therapies, we challenge the inevitability of genetic diseases, including blindness, hemophilia, lysosomal storage disorders 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, and follow us on Twitter and LinkedIn.
Spark Therapeutics Cautionary note on forward-looking statements
This release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements regarding the company's Eye Want 2 Know program. The words ‘‘anticipate,’’ ‘‘believe,’’ ‘‘expect,’’ ‘‘intend,’’ ‘‘may,’’ ‘‘plan,’’ ‘‘predict,’’ ‘‘will,’’ ‘‘would,’’ ‘‘could,’’ ‘‘should,’’ ‘‘continue’’ and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. We may not actually achieve the plans, intentions or expectations disclosed in our forward-looking statements, and you should not place undue reliance on our forward-looking statements. Any forward-looking statements are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in, or implied by, such forward-looking statements. These risks and uncertainties include, but are not limited to, the risk that: (i) Eye Want 2 Know does not ensure the IRD community is aware of and appreciates the urgency for genetic testing, (ii) the critical barriers to adopting genetic testing are different than what we believe, and (iii) genetic testing may not provide clarity, resources or community support to those living with an IRD. For a discussion of other risks and uncertainties, and other important factors, any of which could cause our actual results to differ from those contained in the forward-looking statements, see the "Risk Factors" section, as well as discussions of potential risks, uncertainties and other important factors, in our Annual Report on Form 10-K, our Quarterly Reports on Form 10-Q and other filings we make with the U.S. Securities and Exchange Commission. All information in this press release is as of the date of the release, and Spark undertakes no duty to update this information unless required by law.
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Source: Spark Therapeutics, Inc.