Spark Therapeutics Launches Initiative to Improve Access to Genetic Testing for Inherited Retinal Diseases
13 October 2016 - 10:30PM
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
www.idyourird.com. 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 www.asharedvision.com. 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.
About Spark TherapeuticsSpark Therapeutics, a
fully integrated gene therapy company, is seeking to transform the
lives of patients with debilitating genetic diseases by developing
investigational, potentially one-time, life-altering treatments.
Spark Therapeutics’ validated gene therapy platform is being
applied to a range of clinical and preclinical programs addressing
serious genetic diseases, including inherited retinal diseases,
liver-associated diseases, such as hemophilia, and
neurodegenerative diseases. Spark Therapeutics’ validated platform
has successfully delivered proof-of-concept data with
investigational gene therapies in the eye and liver. Spark
Therapeutics’ most advanced product candidate, voretigene
neparvovec (formerly referred to as SPK-RPE65), which has received
both breakthrough therapy and orphan product designations, has
reported top-line results from a pivotal Phase 3 clinical trial for
the potential treatment of a rare blinding condition. Spark
Therapeutics’ hemophilia franchise has two lead
assets: SPK-9001 in a Phase 1/2 trial for hemophilia B
and SPK-8011, a preclinical candidate for hemophilia A. To learn
more, please visit www.sparktx.com.
Spark Therapeutics Corporate Contacts:
Stephen W. Webster, Chief Financial Officer
Daniel Faga, Chief Business Officer
(855) SPARKTX (1-855-772-7589)
Media Contact:
Dan Quinn
Ten Bridge Communications
(781) 475-7974
dan@tenbridgecommunications.com
Patients and Family Members Contact:
patients@sparktx.com
Onconetix (NASDAQ:ONCE)
Historical Stock Chart
From Apr 2024 to May 2024
Onconetix (NASDAQ:ONCE)
Historical Stock Chart
From May 2023 to May 2024