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October 29, 2018

Invitae expands work with Alnylam Pharmaceuticals to provide access to genetic testing for primary hyperoxaluria

-- Part of Invitae's network of partnerships, program supports early diagnosis to help patients and their clinicians make more informed decisions about their health --

SAN FRANCISCO, Oct. 29, 2018 /PRNewswire/ -- Invitae Corporation (NYSE: NVTA), one of the fastest growing genetics companies, announced today it has expanded its partnership with Alnylam Pharmaceuticals, the leading RNAi therapeutics company, to provide genetic testing at no cost to patients through the Alnylam Act® program for individuals who may carry gene mutations associated with primary hyperoxaluria, an ultra-rare genetic disorder affecting the kidneys that most often presents in childhood.

Invitae's (NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. (PRNewsFoto/Invitae Corporation)

The Alnylam Act® program was developed to reduce barriers to genetic testing and counseling in order to help people make informed decisions about their health. As part of the Alnylam Act® program, patients in the U.S. and Canada with a suspected diagnosis or a confirmed family history of primary hyperoxaluria may be eligible to receive Invitae genetic testing at no charge. Invitae will provide results to participating clinicians and their patients in as little as two weeks. Alnylam provides funding to support the program.

"Increasing access to genetic testing can shorten the path to diagnosis and prevent misdiagnoses for patients with suspected primary hyperoxaluria, which is essential given its early onset and the potential for it to progress to life-threatening end-stage renal disease," said Pritesh J. Gandhi, PharmD., Vice President and General Manager, Lumasiran program at Alnylam. "We are very pleased to be working with Invitae on this important program to make genetic testing available to patients sooner in the diagnostic process."

In extreme cases of primary hyperoxaluria type 1 (PH1), kidney damage can be present in patients as young as four months old and as many as a third of PH1 patients are not diagnosed until they have reached end-stage renal failure. Genetic testing for primary hyperoxaluria determines whether a patient is a carrier of a mutation in the gene (AGXT) associated with the disease to confirm a diagnosis and inform clinical decision-making.

"Particularly for rare progressive diseases such as PH1, early and accurate diagnosis is essential when making choices for managing the disease. We strongly believe that genetic testing has the ability to accelerate the diagnostic process, and an early diagnosis has the power to change medical outcomes," said Robert Nussbaum, MD, chief medical officer of Invitae. "Invitae is proud to partner with Alnylam to provide genetic testing to these patients to support their ability to make informed medical decisions for themselves and their families."

Primary hyperoxaluria is an inherited disorder of glyoxylate metabolism in which hepatic enzyme deficiencies result in excessive endogenous production of oxalate. The excess oxalate cannot be degraded and is excreted in large amounts by the kidneys, resulting in high urinary concentrations. Most patients with primary hyperoxaluria type 1 present with signs or symptoms related to kidney stones; symptoms are observed in 65 percent of patients before age 101 and 85 percent of patients before age 202. Over time, progressive renal damage leads to impaired kidney function. In extreme cases, compromised kidney function can be evident early on during infancy.

Invitae-sponsored testing programs help lower barriers to obtaining diagnostic genetic information for patients and clinicians. Sponsors provide financial support for these programs, which offer specified genetic testing at no cost to patients. Invitae and sponsor companies collaborate on informing clinicians about the programs. Participation is based on eligibility criteria set for each program and testing must be ordered by a clinician. Patient privacy is strictly protected and program sponsors do not have access to identifiable patient information.

Patients and clinicians who are interested in Alnylam Act® can learn more at the program website at

About Invitae
Invitae Corporation (NYSE: NVTA) is a 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 most of the world's genetic tests into a single service with higher quality, faster turnaround time and lower prices.

About Alnylam Pharmaceuticals
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, hepatic infectious, and central nervous system (CNS) 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. Alnylam's first U.S. FDA-approved RNAi therapeutic is ONPATTRO™ (patisiran) lipid complex injection available in the U.S. for the treatment of the polyneuropathy of hereditary transthyretin-mediated (hATTR) amyloidosis in adults. In the EU, ONPATTRO is approved for the treatment of hATTR amyloidosis in adults with stage 1 or stage 2 polyneuropathy. Alnylam has a 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 multiproduct, 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 over 800 people worldwide and is headquartered in Cambridge, MA. For more information about our people, science and pipeline, please visit and engage with us on Twitter at @Alnylam or on LinkedIn.

Invitae's Safe Harbor Statement
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 Invitae's partnership with Alnylam to provide genetic testing through the Alnylam Act program, including the ability to shorten the path to diagnosis, aid in the diagnosis of patients, support the ability of patients and their physicians to make informed medical decisions, and potentially change medical outcomes. 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: Invitae's ability to use rapidly changing genetic data to interpret test results accurately and consistently; laws and regulations applicable to Invitae's business; Invitae's failure to manage growth effectively; Invitae's ability to compete; security breaches, loss of data and other disruptions; 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 June 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.

Laura D'Angelo
(628) 213-3283

1 Edvardsson VO, Goldfarb DS, Lieske JC, Beara-Lasic L, Anglani F, Milliner DS and Palsson F. Hereditary causes of kidney stones and chronic kidney disease, Pediatr Nephrol. 2013, 28:1923-42.
2 Hoppe, Bernd, Bodo B. Beck, and Dawn Milliner. "The Primary Hyperoxalurias." Kidney international 75.12 (2009): 1264–1271. PMC. Web. 23 July 2018.


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