BioMarin expands genetic seizure testing program for kids

BioMarin is expanding its gene-panel test program with new partners and wider age ranges to diagnose genetic epilepsy causes sooner. (BioMarin)

BioMarin Pharmaceutical and Invitae are expanding their free genetic testing program for children with seizures. Now through the Behind the Seizure initiative, any child under the age of five who has had an unprovoked seizure can be tested.

The companies also added two sponsoring partners, Stoke Therapeutics and Xenon Pharmaceuticals, to the program, which began in 2017.

For rare disease specialist BioMarin, the expansion is important in finding the genetic causes of epilepsy as early as possible. Already, almost 200 children have received Invitae's custom-created panel test of more than 180 genes associated with causes of epilepsy. The result? Children in the program are diagnosed from one to two years sooner than historic averages. For CLN2 specifically, the time was cut to an average 11.5 months from seizure onset to diagnosis, down from an historic average of two to three years.


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BioMarin makes Brineura, approved to treat CLN2, a type of Batten disease that causes seizures in children as one of its symptoms. The disease can be detected through genetic testing.

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“Most neurologists don’t think they’ll ever see a case of CLN2. But they think if they ever do see it, they’ll recognize it right away,” Alexis Braun, associate director marketing at BioMarin, said.

However, with the free testing through Behind the Seizure, physicians can more easily confirm or rule out not only CLN2, but a wide range of other genetic causes. The Invitae panel tests 180 genes associated with epilepsy, meaning it can help discover other genetic disorders. About 50% of epilepsy causes are genetic. The test is also quick, with a 14-day average for results.

Even if nothing is found, ruling out genetic epilepsy can be just as important to families and their physicians, Debra Charlesworth, VP of corporate communications at BioMarin, said. 

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“Pediatric epilepsies are a very heterogeneous group of disorders—there are many things that can cause this,” Robert Nussbaum, Invitae’s chief medical officer, said. “With the development of precision therapies, it’s extremely important to make the diagnosis to provide treatment, especially since it’s clear with many of these disorders, the sooner you get the child on the treatment, the better the outcome because there is long-term damage that can occur.”

Along with the wider age range for testing, the two new partners in the program expanded the potential for epilepsy treatment. Stoke Therapeutics is focused on developing therapies that address the root cause of genetic epilepsies and has started with Dravet syndrome, while Xenon has a pipeline of neurology therapies that focus on epilepsy, with two in development for KCNQ2 and SCN8A epileptic encephalopathies.

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