SAN FRANCISCO, Feb. 26, 2019 /PRNewswire/ -- As Rare
Disease Day focuses attention on the challenges of diagnosing rare,
often genetic conditions, BioMarin Pharmaceutical Inc. (NASDAQ:
BMRN), Invitae Corporation (NYSE: NVTA), Stoke Therapeutics and
Xenon Pharmaceuticals (NASDAQ: XENE) today announced the
expansion of Behind the Seizure, an innovative, cross-company
collaboration that aims to provide faster diagnosis for young
children with epilepsy. Previously available to patients ages 2-4
years, the program will expand eligibility to make no-cost genetic
testing available for healthcare providers to order for children
who have had an unprovoked seizure from birth up to age five (0 to
60 months).
"Genetic testing can be invaluable in helping families and
healthcare providers better understand how to care for children
living with epilepsy," said Amy Brin
Miller, executive director and chief executive office of the
Child Neurology Foundation. "We applaud this unique effort to bring
multiple partners together to help increase access to genetic
testing for more of their patients, including their youngest
ones."
Since the program began, hundreds of children have received
genetic testing through Behind the Seizure and research has shown
participants in the program were diagnosed 1-2 years sooner than
historic averages.1
"Through this program we can secure comprehensive genetic
testing for a child who has had an unprovoked seizure at no cost to
the patient. That testing helps us get to a diagnosis faster so we
can focus on providing the most accurate and timely treatment for
our patients," said Raman Sankar,
M.D., professor and chief of pediatric neurology at UCLA Mattel
Children's Hospital in Los
Angeles. "When dealing with such young patients, this type
of program can be very important, shortening the time to diagnosis,
particularly for neurodegenerative conditions such as CLN2
disease."
Partners in the program sponsor the cost of testing using the
Invitae Epilepsy Panel, which includes up to 180+ genes associated
with both syndromic and non-syndromic causes of epilepsy, including
neurodegenerative conditions. With the expansion of the program,
healthcare providers can now order the test for patients under the
age of five with unprovoked seizures. Test results are available
quickly (14 days on average).
"For many of the genetic disorders which cause serious
debilitating morbidities in young children, early diagnosis is of
paramount importance, and targeted early genetic testing is one way
to overcome the challenges of delayed diagnosis. Over the years
we've heard from physicians, advocacy groups, and parents about the
challenges they face in implementing genetic testing early, to
provide accurate and timely diagnosis that enables them to tailor
their patients' care," said Adrian
Quartel, group vice president and head of medical affairs
for BioMarin. "We're proud to be working with our partners to
further expand the Behind the Seizure program and foster earlier
genetic testing – especially for the youngest patients."
"More than half of epilepsies are based in genetics. When a
child experiences a seizure, performing genetic testing quickly
using a comprehensive gene panel is a highly cost-effective and
informative diagnostic tool. Quickly finding an underlying cause
for infantile epilepsy can be crucial for making a difference for
that patient with precision management and treatment options," said
Robert Nussbaum, M.D., chief medical
officer of Invitae. "We're proud to partner with BioMarin, Stoke
and Xenon to help more children get access to genetic testing
sooner."
"At Stoke, we're focused on developing therapies that address
the root cause of genetic epilepsies, starting with Dravet
syndrome. As precision medicines become available, it is
increasingly important for patients to get early and accurate
genetic testing so they can be matched with the appropriate
treatment. That's why we're delighted to support this critical
expansion of the Behind the Seizure program," said Ed Kaye, M.D., chief executive officer of Stoke
Therapeutics.
"Xenon is proud to be part of the Behind the Seizure
collaboration, which aims to rapidly identify the genetic cause of
seizures in children, including KCNQ2 and SCN8A epileptic
encephalopathies. By offering this genetic testing to very young
patients, it is hoped that the results will lead to earlier
diagnoses and improved treatment outcomes through the introduction
of personalized medicine approaches," said Simon Pimstone, M.D., chief executive officer of
Xenon Pharmaceuticals.
To learn more about the Behind the Seizure program please visit
https://www.invitae.com/en/behindtheseizure/.
About BioMarin
BioMarin is a global biotechnology
company that develops and commercializes innovative therapies for
patients with serious and life-threatening rare and ultra-rare
genetic diseases. The company's portfolio consists of seven
commercialized products and multiple clinical and pre-clinical
product candidates. For additional information, please visit
www.biomarin.com.
About Invitae
Invitae Corporation (NYSE: NVTA) is a
leading genetics company whose mission is to bring comprehensive
genetic information into mainstream medicine to improve healthcare
for billions of people. Invitae's goal is to aggregate the world's
genetic tests into a single service with higher quality, faster
turnaround time, and lower prices. For more information, visit the
company's website at invitae.com.
About Stoke Therapeutics
Launched in 2018, Stoke
Therapeutics is a biotechnology company working to increase gene
expression to treat a wide array of severe genetic diseases,
including genetic conditions affecting the central nervous system,
eye, liver and kidney. Stoke's lead program addresses Dravet
syndrome, one of the more common causes of genetic epilepsy. Stoke
has raised $130 million in funding
from two rounds of financing; investors include Apple Tree
Partners, RTW Investments, RA Capital Management, Cormorant Asset
Management, Perceptive Advisors, funds managed by Janus Henderson
Investors, Redmile Group, Sphera Funds Management, and Alexandria
Venture Investments. For more information, visit
www.StokeTherapeutics.com and follow Stoke on Twitter @StokeTx.
About Xenon Pharmaceuticals
Xenon Pharmaceuticals is a
clinical stage biopharmaceutical company committed to developing
innovative therapeutics to improve the lives of patients with
neurological disorders, including rare central nervous system (CNS)
conditions. We are advancing a novel product pipeline of neurology
therapies to address areas of high unmet medical need, with a focus
on epilepsy. For more information, please visit
www.xenon-pharma.com.
Safe Harbor Statements
This press release contains
forward-looking statements within the meaning of the Private
Securities Litigation Reform Act of 1995, including statements
relating to the benefits of genetic testing and the Behind the
Seizure program, including shortening the time to diagnosis and
improved treatment outcomes for patients. Forward-looking
statements are subject to risks and uncertainties that could cause
actual results to differ materially, and reported results should
not be considered as an indication of future performance. These
risks and uncertainties include, but are not limited to: the
company's ability to use rapidly changing genetic data to interpret
test results accurately and consistently; the ability of genetic
testing to result in faster or more accurate diagnosis; laws and
regulations applicable to the company's business; and the other
risks set forth in Invitae's filings with the Securities and
Exchange Commission, including the risks set forth in its Quarterly
Report on Form 10-Q for the quarter ended September 30, 2018. These forward-looking
statements speak only as of the date hereof, and Invitae
Corporation disclaims any obligation to update these
forward-looking statements.
Contact:
Laura D'Angelo
pr@invitae.com
(628) 213-3283
1Miller, Nicole, et al, "Behind the Seizure: A
No-Cost 125-gene Epilepsy Panel for Pediatric Seizure Onset Between
2–4 Years." Presented at the American Society of Human Genetics
Meeting: October 16–20, 2018, San Diego,
CA.
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SOURCE Invitae Corporation