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Invitae, Alnylam to Provide Free Genetic Testing for Primary Hyperoxaluria

NEW YORK (GenomeWeb) — Invitae announced today that it is partnering with RNAi therapeutics firm Alnylam Pharmaceuticals to provide free genetic testing to improve diagnosis and management of a rare inherited disorder called primary hyperoxaluria.

The livers of patients with primary hyperoxaluria can't create sufficient amounts of an enzyme that prevents overproduction of a chemical called oxalate. Too much oxalate combined with calcium cause kidney stones and crystals to form and damage the kidneys. Over time, this damage impairs renal function or causes kidney failure in some patients. In severe cases of primary hyperoxaluria type 1, about a third of patients aren't diagnosed until they reach end-stage renal failure. Four-month-old babies with primary hyperoxaluria type 1 can have signs of kidney damage.

Genetic testing to gauge whether a person carries a mutation in the AGXT gene associated with the disease can confirm a suspected diagnosis and inform decision making.

Alnylam funds the Alnylam Act program, through which it already partners with Invitae to provide genetic testing for patients at risk for rare, hereditary diseases, including ATTR amyloidosis and acute hepatic porphyries. 

In the latest expansion of this program, patients in the US and Canada suspected of having primary hyperoxaluria or with a family history of the disease will be eligible to receive testing from Invitae at no cost. Within this program, testing must be ordered by physicians — Invitae will provide test results to doctors and their patients in two weeks and Alnylam will not have access to identifiable patient information.

"Increasing access to genetic testing can shorten the path to diagnosis and prevent misdiagnosis 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," Pritesh Gandhi, Alnylam's VP and general manager of the program for its RNAi therapeutic Lumasiran, said in a statement.

Earlier this year, Alnylam said that it would rapidly move Lumasiran — which is still being investigated as a treatment for primary hyperoxaluria type 1 — into a Phase III pivotal trial in late 2018. The drug has breakthrough therapy designation from the US Food and Drug Administration.

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