Alnylam Pharmaceuticals, Inc. ALNY, the leading RNAi therapeutics company, today marked the 10th annual Rare Disease Day by underscoring its commitment to enabling diagnosis for people and caregivers impacted by specific rare diseases, such as hereditary ATTR amyloidosis (hATTR amyloidosis). As part of this effort, Alnylam sponsors free third-party genetic counseling and testing through Alnylam Act™ (previously known as Alnylam Assist), a program created to empower patients with the knowledge and tools to make informed decisions about their health and facilitate an early, accurate diagnosis, potentially leading to improved care. The services, currently available in the United States, are provided by independent third parties.
hATTR amyloidosis is an inherited, rapidly progressive life-threatening disease impacting 50,0001 people worldwide. It is caused by a mutation in the transthyretin (TTR) gene that results in misfolded TTR proteins accumulating as amyloid fibrils in multiple tissues including the nerves, heart and gastrointestinal tract. The degree and severity of symptoms vary from person to person but can lead to morbidity, disability and mortality within two to 15 years of symptom onset.1,2
"hATTR amyloidosis is significantly under-diagnosed and often misdiagnosed because of its constellation of symptoms that may overlap with other diseases, leading many patients to experience inappropriate medical intervention, such as unnecessary medicine and surgery," said Sami L. Khella, M.D., Chief, Department of Neurology, Penn Presbyterian Medical Center and Professor of Clinical Neurology, University of Pennsylvania School of Medicine. "For my patients who have symptoms consistent with hATTR amyloidosis, Alnylam Act helps to make an accurate diagnosis."
"As of January 2017 approximately one thousand people have been tested via Alnylam Act, and nearly 16 percent of these tests were positive for a pathogenic mutation in the TTR gene, demonstrating the need to increase awareness and improve diagnosis rates," said Pritesh Gandhi, Vice President, Medical Affairs at Alnylam. "Alnylam Act is a reflection of our commitment to the hATTR amyloidosis community, and we are proud to make these complimentary third-party services available to the people at risk for, or impacted by, this progressive rare disease."
In addition to genetic testing that can be ordered by a healthcare professional, Alnylam Act allows patients and their families to connect with genetic counselors who provide education and support, serving as an advocate to help guide them through the diagnostic journey.
"It can be beneficial to meet with a genetic counselor prior to undergoing testing to understand the benefits and risks involved, including life and health insurance implications and how to work through a diagnosis," said Shawna Feely, MS, CGC, Genetic Counselor, University of Iowa. "It is our goal to help enable those at risk for hATTR amyloidosis to obtain the answers and support they need to make more informed decisions about their health and the health of their family."
For physicians interested in ordering free hATTR amyloidosis genetic testing for their patients, or for people interested in scheduling a genetic counseling session to discuss the benefits, risks and limitations of genetic testing, visit Alnylam Act.
About hATTR Amyloidosis
Hereditary ATTR amyloidosis (hATTR
amyloidosis) is an inherited, rapidly progressive, life-threatening
disease. hATTR amyloidosis is a multisystemic disease with a
heterogeneous clinical presentation that includes sensory and motor,
autonomic (e.g., diarrhea, erectile dysfunction, hypotension) and
cardiac symptoms. hATTR amyloidosis can lead to significant morbidity,
disability and mortality within two to 15 years. The disease continuum
of hATTR amyloidosis includes patients who present with predominantly
polyneuropathy symptoms, historically known as familial amyloidotic
polyneuropathy (FAP), as well as patients who present with predominantly
cardiomyopathy symptoms, historically known as familial amyloidotic
cardiomyopathy (FAC). However, many patients suffer from both
polyneuropathy and cardiomyopathy symptoms. hATTR amyloidosis represents
a major unmet medical need, affecting approximately 50,000 people
worldwide. The only approved treatment options for early stage disease
are liver transplantation and tafamidis (approved in Europe, certain
countries in Latin America and Japan, where it is approved for all
stages of the disease). There is a significant need for novel
therapeutics to treat patients with ATTR amyloidosis.
About RNAi
RNAi (RNA interference) is a revolution in
biology, representing a breakthrough in understanding how genes are
turned on and off in cells, and a completely new approach to drug
discovery and development. Its discovery has been heralded as "a major
scientific breakthrough that happens once every decade or so," and
represents one of the most promising and rapidly advancing frontiers in
biology and drug discovery today which was awarded the 2006 Nobel Prize
for Physiology or Medicine. RNAi is a natural process of gene silencing
that occurs in organisms ranging from plants to mammals. By harnessing
the natural biological process of RNAi occurring in our cells, the
creation of a major new class of medicines, known as RNAi therapeutics,
is on the horizon. Small interfering RNA (siRNA), the molecules that
mediate RNAi and comprise Alnylam's RNAi therapeutic platform, target
the cause of diseases by potently silencing specific mRNAs, thereby
preventing disease-causing proteins from being made. RNAi therapeutics
have the potential to treat disease and help patients in a fundamentally
new way.
About Alnylam Pharmaceuticals
Alnylam is a biopharmaceutical
company developing novel therapeutics based on RNA interference, or
RNAi. The company is leading the translation of RNAi as a new class of
innovative medicines. Alnylam's pipeline of investigational RNAi
therapeutics is focused in 3 Strategic Therapeutic Areas (STArs):
Genetic Medicines, with a broad pipeline of RNAi therapeutics for the
treatment of rare diseases; Cardio-Metabolic Disease, with a pipeline of
RNAi therapeutics toward genetically validated, liver-expressed disease
targets for unmet needs in cardiovascular and metabolic diseases; and
Hepatic Infectious Disease, with a pipeline of RNAi therapeutics that
address the major global health challenges of hepatic infectious
diseases. In early 2015, Alnylam launched its "Alnylam 2020" guidance
for the advancement and commercialization of RNAi therapeutics as a
whole new class of innovative medicines. Specifically, by the end of
2020, Alnylam expects to achieve a company profile with 3 marketed
products, 10 RNAi therapeutic clinical programs - including 4 in late
stages of development - across its 3 STArs. The company's demonstrated
commitment to RNAi therapeutics has enabled it to form major alliances
with leading companies including Ionis, Novartis, Roche, Takeda, Merck,
Monsanto, The Medicines Company, and Sanofi Genzyme. In addition,
Alnylam holds an equity position in Regulus Therapeutics Inc., a company
focused on discovery, development, and commercialization of microRNA
therapeutics. Alnylam scientists and collaborators have published their
research on RNAi therapeutics in over 200 peer-reviewed papers,
including many in the world's top scientific journals such as Nature,
Nature Medicine, Nature Biotechnology, Cell, New England Journal of
Medicine, and The Lancet. Founded in 2002, Alnylam maintains
headquarters in Cambridge, Massachusetts. For more information about
Alnylam's pipeline of investigational RNAi therapeutics, please visit www.alnylam.com.
Alnylam Forward Looking Statements
Various statements in
this release concerning Alnylam's future expectations, plans and
prospects, including without limitation, Alnylam's views with respect to
the potential for RNAi therapeutics, its expectations regarding its STAr
pipeline growth strategy, and its "Alnylam 2020" guidance for the
advancement and commercialization of RNAi therapeutics, constitute
forward-looking statements for the purposes of the safe harbor
provisions under The Private Securities Litigation Reform Act of 1995.
Actual results and future plans may differ materially from those
indicated by these forward-looking statements as a result of various
important risks, uncertainties and other factors, including, without
limitation, Alnylam's ability to discover and develop novel drug
candidates and delivery approaches, successfully demonstrate the
efficacy and safety of its product candidates, the pre-clinical and
clinical results for its product candidates, which may not be replicated
or continue to occur in other subjects or in additional studies or
otherwise support further development of product candidates for a
specified indication or at all, actions or advice of regulatory
agencies, which may affect the design, initiation, timing, continuation
and/or progress of clinical trials or result in the need for additional
pre-clinical and/or clinical testing, delays, interruptions or failures
in the manufacture and supply of our product candidates, obtaining,
maintaining and protecting intellectual property, Alnylam's ability to
enforce its intellectual property rights against third parties and
defend its patent portfolio against challenges from third parties,
obtaining and maintaining regulatory approval, pricing and reimbursement
for products, progress in establishing a commercial and ex-United States
infrastructure, competition from others using technology similar to
Alnylam's and others developing products for similar uses, Alnylam's
ability to manage its growth and operating expenses, obtain additional
funding to support its business activities, and establish and maintain
strategic business alliances and new business initiatives, Alnylam's
dependence on third parties for development, manufacture and
distribution of products, the outcome of litigation, the risk of
government investigations, and unexpected expenditures, as well as those
risks more fully discussed in the "Risk Factors" filed with Alnylam's
most recent Annual Report on Form 10-K filed with the Securities and
Exchange Commission (SEC) and in other filings that Alnylam makes with
the SEC. In addition, any forward-looking statements represent Alnylam's
views only as of today and should not be relied upon as representing its
views as of any subsequent date. Alnylam explicitly disclaims any
obligation, except to the extent required by law, to update any
forward-looking statements.
1 Suanprasert N, et al. J Neurol Sci. 2014.
2
Ruberg and Berk, Circulation; 126:1286-300 (2012).
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