Spark Therapeutics Launches Initiative to Improve Access to Genetic Testing for Inherited Retinal Diseases

October 18, 2016

Spark Therapeutics (NASDAQ: ONCE) will provide physicians and eligible patients access to genetic testing and counseling for more than 30 genes linked to certain forms of inherited retinal diseases (IRDs), a group of eye conditions believed to affect more than 100,000 people in the United States. The IDentify Your Inherited Retinal Disease, or ID YOUR IRD, initiative was formally unveiled this week at the American Academy of Ophthalmology (AAO) 2016 Annual Meeting by Spark Therapeutics, a fully integrated gene therapy company seeking to transform the lives of patients with debilitating genetic diseases by developing investigational, potentially one-time, life-altering treatments.

“A confirmed genetic diagnosis is a critical gateway for patients with inherited retinal diseases and this initiative will help patients, caregivers and the medical community better understand their disease,” said Mark Pennesi, M.D., Ph.D., associate professor of ophthalmology in the OHSU School of Medicine, OHSU Casey Eye Institute. “Genetic testing may provide valuable insight into the underlying cause of vision impairment and enable patients to connect to others living with the same condition. With the identification of new genes and the growing focus on gene therapy research, our understanding of IRDs is changing rapidly. People with IRDs are encouraged to seek testing even if they have previously been tested for a genetic disease.”

The initiative was developed in response to feedback from advocates, families affected by IRDs and health care professionals about the current barriers preventing access to genetic screening for IRDs in a consistent, streamlined manner. Spark Therapeutics is working with physicians across the country who will be equipped to facilitate IRD genetic testing for eligible patients. Eligibility will be determined by the patient’s physician. Participating physicians will send test samples to an independent lab, which will process the sample and deliver test results that may confirm the specific genetic mutation causing the IRD. This information may help determine the best course of action for the patient. Eligible patients will receive the genetic test offered by ID YOUR IRD free of charge, subject to the initiative’s terms and conditions. The initiative also offers optional access to independent genetic counselors at no cost to eligible patient participants.

“This free screening initiative offered by Spark Therapeutics gives eligible patients and their physicians easy access to laboratory testing for more than 30 disease-causing genes,” said Steve Rose, chief research officer at Foundation for Fighting Blindness. “While deciding to be tested is always a personal decision between patients and their physicians, this type of information can identify the underlying genetic cause of a person’s retinal disease and help them understand how the disease may affect their vision over their lifetime. In addition, this initiative will provide more data on the prevalence of certain gene mutations, which could help guide further research.”

Spark Therapeutics has been working closely with physicians in the United States and other countries around the world to help provide access to genetic screening for people with IRDs. Similar efforts are underway or in development across South America and Europe. It is estimated that more than 2 million people live with IRDs globally, but only a small percentage of them have been genetically screened due to limited access to and information about genetic testing.

“We are proud to launch this important national initiative for people with IRDs to support the medical community’s adoption of precise genetically based diagnoses,” said Jeffrey D. Marrazzo, chief executive officer of Spark Therapeutics. “As a leader in the development of investigational gene therapies for IRDs, we have a responsibility to help provide patients, caregivers and health care professionals with access to the genetic information they need to make the most informed decisions about their care.”

Spark Therapeutics is coordinating with two other independent companies to offer this service. PreventionGenetics, a Clinical Laboratory Improvement Amendments (CLIA)- and International Organization for Standardization (ISO) 15189-accredited laboratory with one of the largest, most comprehensive DNA test menus of any lab in the United States, will conduct the tests using either blood or saliva samples collected through a testing kit provided to participating clinicians. InformedDNA, the nation’s largest independent provider network of genetics specialists, will provide genetic counseling services to patients, caregivers and health care professionals through the process, and will help discuss the interpretation of test results.

People living with IRDs or their family members may initiate the process of determining eligibility by talking with their health care professional about ID YOUR IRD or by visiting The site includes a brief patient screener, complete initiative terms and conditions, and other resources. Additional disease information, including guidance to help families work with health care professionals to seek a genetic diagnosis, may be found at Spark Therapeutics ID YOUR IRD liaisons are also available at 1-855- SPARKTX (1-855-772-7589) to provide information.

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. Common IRDs include choroideremia (CHM), Leber congenital

amaurosis (LCA), cone-rod dystrophy (CRD), juvenile macular degeneration (JMD) and retinitis pigmentosa (RP). In total, more than 220 genes have been linked to IRDs that affect more than 2 million people globally.

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