Companies Unite to Support Free Gene Testing in Young Children with Seizures

Neurogene, which is developing therapies to treat people with Batten disease, has joined with other companies in supporting and expanding Behind the Seizure, a collaborative effort to provide free genetic testing to children in the U.S. and Canada with unexplained seizures.

Behind the Seizure was established by Invitae Corporation and BioMarin Pharmaceutical, and initially served children under age 5 by providing financial support for testing services performed by Invitae. 

A number of companies have since joined in offering support: Stoke Therapeutics and Xenon Pharmaceuticals in 2019, and most recently Biogen, Encoded Therapeutics, Praxis Precision Medicines and PTC Therapeutics, in addition to Neurogene.

The program’s goal is to identify hereditary diseases, like Batten, that might be the root cause of the seizures.

With the growth in corporate support, the program is expanding to offer no-cost gene testing to children with seizures younger than 8 years old. Results are available, on average, in 14 days.

“Behind the Seizure is one of the longest-running cross-company collaborations aimed at increasing access to genetic testing,” Robert Nussbaum, MD, and chief medical officer of Invitae, said in a press release.

“It has been shown to decrease time to diagnosis for children experiencing unprovoked seizures by one to two years from reported averages, and as more companies have joined the program, more children have been helped,” Nussbaum added.

To date, nearly 10,000 people have been tested using the Invitae Epilepsy Panel, which screens more than 180 genes associated with epilepsy and other neurodegenerative conditions. With each of these conditions, early symptoms can be subtle and patients easily misdiagnosed. 

To use the program, patients in the U.S. and Canada must meet certain criteria confirmed by healthcare professionals. Commercial organizations will have assess to general patient data and contact information for healthcare providers who use the program, but not to information that might identify a patient, the release states. 

Given that more than 50% of epilepsies have a genetic base, testing those having seizures could identify more than 100 underlying, and often rare, genetic diseases that may be their cause. This would allow for earlier diagnosis and treatment.

In Batten disease, the most common first symptom is loss of vision. Seizures follow, occurring in all types of Batten, and can be divided into three groups: generalized seizures, partial seizures, and status epilepticus.

The program has resulted in a confirmed diagnosis for around 15% to 25% of those tested, depending on the specific gene panel used. Options for treatment with precision medicine were identified in 33% of those testing positive.