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Msg  34760 of 34784  at  2/11/2020 6:53:28 PM  by


The following message was updated on 2/11/2020 6:57:03 PM.

Genetic testing for Givlari



By Staff Reporter, San Francisco Business Times

In a long diagnostic journey that steals time from rare-disease patients, a San Francisco genetic test maker is boosting its cross-company collaboration to more quickly connect kids experiencing seizures with potential life-changing treatments.

Invitae Inc. (NYSE: NVTA) said its no-charge "Behind the Seizure Program," which started more than two years ago with San Rafael-based BioMarin Pharmaceutical Inc. (NASDAQ: BMRN), now includes more than seven companies with anti-seizure drugs. The company also is expanding the program to allow health care providers to order the genetic test for any child under eight who has an unprovoked seizure.

The data that Invitae turns over to drug makers doesn't identify patients, but a precise genetic marker allows patients' doctors to potentially match the discovery of an abnormal gene to a drug. That includes BioMarin's Brineura, which is used to treat a seizure-inducing rare neurodegenerative disease caused by a gene called CLN2.

In all, Invitae's epilepsy panel can test for 187 genes.

Additions to Invitae's program include South San Francisco gene therapy company Encoded Therapeutics Inc., Biogen Inc. (NASDAQ: BIIB), Neurogene Inc. Praxis Precision Medicines and PTC Therapeutics Inc. (NASDAQ: PTCT).

More companies means a lower cost to run Invitae's panel while at the same time broadening the criteria for the test that allows older children to be tested. That translates into turning genetic testing from a last resort to something doctors prescribe early on, Invitae CEO Sean George said.

"It changes the dynamic to do this on the front end," George said.

More than half of epilepsies are believed to have a genetic basis.

The cost of a standard 250-gene panel reimbursed by insurers is about $1,000, and the price paid by a patient is $250. But the seizure program brings that price to zero for doctors and patients, with the cost covered by drug makers.

"It's just simply the more partners in the network, the more testing can be done," George said. "The resources are there with more partners."

Invitae's sponsored testing programs with drug makers go beyond genetic epilepsy. In immunology, for example, it's working with X4 Pharmaceuticals Inc. (NASDAQ: XFOR) of Cambridge, Mass., to identify people who may carry a genetic mutation associated with severe chronic or congenital neutropenia, a condition that leads to a higher risk of recurrent severe infection. It is also working with drug makers in cardiology, nephrology, ophthalmology, urology and metabolic disease, including Novato's Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE).

Those tests are getting results. Alnylam Pharmaceuticals Inc. (NASDAQ: ALNY) of Cambridge, Mass., has received 78 hits from 705 samples submitted to Invitae to identify patients with a mutation for acute hepatic porphyria, a liver disease for which Alnylam won Food and Drug Administration approval in November to treat with the drug Givlaari.

That may not look like a big number, but Alnylam spokeswoman Christine Lindenboom said acute hepatic porphyria can take two to 15 years to diagnose. So a test that can tie together symptoms with genetics means the right drug — in this case, Givlaari — can get to the right person.

Alnylam also is working with Invitae to find patients with the defective genes responsible for hereditary transthyretin amyloidosis — deposits of the protein amyloid that can cause vision problems, heart damage and liver trouble, among other symptoms — and the kidney disease type 1 primary hyperoxaluria.

The drug maker's Onpattro was approved by the FDA in August 2018 for hereditary transthyretin amyloidosis, and its experimental Lumasiran targeting hyperoxaluria is being submitted to the FDA.

Alnylam also partnered with Mountain View-based 23andMe Inc., which offers direct-to-consumer testing to detect hereditary transthyretin amyloidosis.

"It's well received by the doctors," Lindenboom said. "And if we find patients faster, that's the right thing to do."


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