Alnylam Acknowledges Rare Disease Day by Highlighting Services to Aid in Rare Disease Diagnosis
- Alnylam Act™ sponsors free third-party genetic counseling and testing services for people at risk for hereditary ATTR amyloidosis (hATTR amyloidosis) -
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
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
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
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.
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,
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-
1 Suanprasert N, et al. J Neurol Sci. 2014.
2 Ruberg and Berk, Circulation; 126:1286-300 (2012).
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