– Individuals with Acute Hepatic Porphyrias
(AHPs), a Family of Ultra-Rare Genetic Diseases, are Often
Misdiagnosed and May Experience an Average Delay in Diagnosis of 15
Years –
Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi
therapeutics company, today announced it has expanded the Alnylam
Act™ program to include no-charge, third-party genetic testing and
counseling for individuals who may carry a gene mutation known to
be associated with acute hepatic porphyrias (AHPs), a family of
ultra-rare, often misdiagnosed genetic diseases. AHPs are
characterized by acute, potentially life-threatening abdominal
attacks and chronic debilitating multi-system symptoms that
severely impact patients’ quality of life.
“Alnylam created the Alnylam Act program to reduce barriers to
genetic testing to help individuals and their doctors make informed
decisions about their health. We are pleased to have expanded
Alnylam Act to include people at risk for or impacted by AHPs, for
whom misdiagnoses are common because hallmark symptoms of AHPs are
similar to those of other, more common diseases, leading to an
average delay in diagnosis of almost 15 years,” said Pritesh
Gandhi, Vice President, Medical Affairs at Alnylam. “This program
also highlights our commitment to the porphyria community, for whom
we are proud to make complimentary third-party services available.
A similar program in hATTR amyloidosis has been available to
enrolled physicians for approximately two years under the Alnylam
Act umbrella. Its use by cardiologists and neurologists has helped
with the diagnosis of many patients with that life-threatening
disease, where diagnosis might otherwise have been delayed or made
more difficult without the ease of access to third party genetic
testing supported through Alnylam Act.”
“Alnylam Act is an important initiative that we hope will help
to improve the diagnosis of people with the acute porphyrias,” said
Desiree Lyon Howe, Executive Director of the American Porphyria
Foundation. “For individuals who have symptoms consistent with
acute hepatic porphyrias – including severe abdominal pain, nausea
and weakness – the genetic testing and counseling offered through
Alnylam Act may help lead to an accurate diagnosis. We are grateful
for Alnylam’s commitment to advancing patient care for the
porphyria community.”
Genetic testing available through Alnylam Act is provided by
Invitae, an independent, third-party genetic testing company. The
genetic testing must be ordered by a healthcare professional and is
available in the United States and Canada. Genetic counseling is
provided by InformedDNA, an independent, third-party genetic
counseling provider and is available in the U.S. only.
“The Alnylam Act program can help patients at risk
for acute hepatic porphyria gain earlier access to
genetic information and will hopefully lead to earlier diagnosis
and improved care,” said Robert Nussbaum, M.D., Chief Medical
Officer of Invitae. “Genetic testing and counseling are essential
for patients who may be at risk of genetic diseases, but too often
are not available early in the diagnostic process. We are proud to
be Alnylam’s genetic testing partner on this important
program.”
About Alnylam ActThe Alnylam Act program was created to
reduce barriers to genetic testing and counseling to help people
make more informed decisions about their health. While Alnylam
provides financial support for this program, all tests and services
are performed by independent third parties. At no time does Alnylam
receive patient-identifiable information. Alnylam receives contact
information for health care providers who sign up for this program.
Genetic testing service is available in the U.S. and Canada.
Genetic counseling is only available in the U.S. Alnylam Act
currently offers genetic testing and counseling services for
individuals at risk for hereditary ATTR (hATTR) amyloidosis and
Acute Hepatic Porphyrias (AHPs).
About GivosiranGivosiran is an investigational,
subcutaneously administered RNAi therapeutic targeting
aminolevulinic acid synthase 1 (ALAS1) for the treatment of acute
hepatic porphyrias (AHPs). It is designed to target and silence a
specific messenger RNA, blocking the production of ALAS1 protein,
the liver-expressed rate-limiting enzyme in the heme biosynthesis
pathway. Lowering and clamping of ALAS1 may reduce the accumulation
of neurotoxic intermediates, aminolevulinic acid (ALA) and
porphobilinogen (PBG), that cause the clinical manifestations of
AHPs. Givosiran has been granted Breakthrough Therapy and Priority
Medicines (PRIME) designations by the U.S. Food and Drug
Administration (FDA) and European Medicines Agency (EMA),
respectively. In addition, it has also been granted orphan drug
designations in both the U.S. and the EU for the treatment of AHPs.
Givosiran utilizes Alnylam’s ESC-GalNAc-siRNA conjugate technology,
which enables subcutaneous dosing with increased potency,
durability, and a wide therapeutic index. The safety and efficacy
of givosiran have not been evaluated by the FDA, the EMA or any
other health authority.
About Acute Hepatic PorphyriasAcute hepatic porphyrias
(AHPs) are rare, genetic diseases characterized by acute,
potentially life-threatening attacks associated with wide-spread
dysfunction across the autonomic, central, and peripheral nervous
systems often requiring hospitalization. Severe pain is the
hallmark symptom of patients suffering from acute and chronic
manifestations. AHPs are caused by one of the eight enzymes
responsible for heme biosynthesis in the liver and include acute
intermittent porphyria (AIP), hereditary coproporphyria (HCP),
variegate porphyria (VP), and ALAD-deficiency porphyria (ADP).
Patients afflicted with this set of diseases are frequently
misdiagnosed, and achieving an accurate diagnosis is often delayed
by over a decade in many patients. Administration of IV hemin is
currently the only available treatment option and is approved for
on-demand treatment of acute attacks but does not prevent attacks,
control chronic manifestations, or decrease the burden of
disease.
About RNAiRNAi (RNA interference) is a natural cellular
process of gene silencing that represents one of the most promising
and rapidly advancing frontiers in biology and drug development
today. Its discovery has been heralded as "a major scientific
breakthrough that happens once every decade or so," and was
recognized with the award of the 2006 Nobel Prize for Physiology or
Medicine. By harnessing the natural biological process of RNAi
occurring in our cells, 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, function upstream of today's medicines
by potently silencing messenger RNA (mRNA) - the genetic precursors
- that encode for disease-causing proteins, thus preventing them
from being made. This is a revolutionary approach with the
potential to transform the care of patients with genetic and other
diseases.
About Alnylam PharmaceuticalsAlnylam (Nasdaq: ALNY) is
leading the translation of RNA interference (RNAi) into a whole new
class of innovative medicines with the potential to transform the
lives of people afflicted with rare genetic, cardio-metabolic, and
hepatic infectious diseases. Based on Nobel Prize-winning science,
RNAi therapeutics represent a powerful, clinically validated
approach for the treatment of a wide range of severe and
debilitating diseases. Founded in 2002, Alnylam is delivering on a
bold vision to turn scientific possibility into reality, with a
robust discovery platform and deep pipeline of investigational
medicines, including four product candidates that are in late-stage
development. Looking forward, Alnylam will continue to execute on
its "Alnylam 2020" strategy of building a multi-product,
commercial-stage biopharmaceutical company with a sustainable
pipeline of RNAi-based medicines to address the needs of patients
who have limited or inadequate treatment options. Alnylam employs
more than 700 people in the U.S. and Europe and is headquartered in
Cambridge, MA. For more information about our people, science and
pipeline, please visit www.alnylam.com and engage with us on
Twitter at @Alnylam or on LinkedIn.
Alnylam Forward Looking StatementsVarious statements in
this release concerning Alnylam's future expectations, plans and
prospects, including without limitation, Alnylam's views with
respect to the potential for givosiran for the treatment of
patients with AHPs, the potential for genetic testing and
counseling available through Alnylam Act to aid in accurately
diagnosing AHPs, and expectations regarding 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 its
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
Quarterly Report on Form 10-Q 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.Givosiran has not been approved by the U.S. Food
and Drug Administration, European Medicines Agency, or any
other regulatory authority and no conclusions can or should be
drawn regarding the safety or effectiveness of this investigational
therapeutic.
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version on businesswire.com: http://www.businesswire.com/news/home/20180104006075/en/
Alnylam Pharmaceuticals, Inc.(Investors and
Media)Christine Regan Lindenboom, 617-682-4340or(Investors)Josh
Brodsky, 617-551-8276
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