Alnylam Expands Alnylam Act™ Program to Include No-Charge Third-Party Genetic Testing and Counseling for People at Risk for Acute Hepatic Porphyrias
– 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 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
“Alnylam Act is an important initiative that we hope will help to
improve the diagnosis of people with the acute porphyrias,” said
Genetic testing available through Alnylam Act is provided by
“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
About Alnylam Act
The 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
Givosiran 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
About Acute Hepatic Porphyrias
Acute 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.
RNAi (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.
Alnylam (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
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 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
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.
Alnylam Pharmaceuticals, Inc.
(Investors and Media)
Christine Regan Lindenboom, 617-682-4340
Josh Brodsky, 617-551-8276