BioMarin Pharmaceutical and Invitae have expanded the Behind the Seizure program to speed diagnoses and provide free genetic testing for children with unexplained seizures who are under age eight in the United States and Canada. Previously, the program only covered children under five.
“As the number of treatments available or in development for genetically-caused epilepsy grows, it is crucial to match children as soon as possible to the right treatments,” said Tracy Dixon-Salazar a neuroscientist, geneticist, and patient advocate who is the mother of a daughter with epilepsy. Some of these conditions, such as Batten’s and Dravet’s, are degenerative.Patients also have more options now. Just a decade ago there were about a dozen genes known to cause epilepsy, today there are more than 300. The number of treatments, particularly those in development, have also multiplied.
More than half of epilepsies have some genetic basis, and are often associated with rare, neurodegenerative conditions with non-specific symptoms. Early genetic testing may be the most direct, cost-effective, and accurate diagnostic tool. Since the Behind the Seizure program began, thousands of children have received genetic testing through it and research has shown that participants in the program were diagnosed one to two years sooner than historic averages.
New partners have also been added to this collaboration, including Biogen, Encoded Therapeutics, Neurogenic, Praxis Precision Medicines, and PTC Therapeutics. They join Stoke Therapeutics and Xenon in helping to fund the program, which includes genetic counseling.
“Behind the Seizure is one of the longest-running crosses-company collaborations aimed at increasing access to genetic testing,” said Robert Nussbaum, Invitae chief medical officer, 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.”
The program’s goal is to identify hereditary diseases that might be the cause of a child’s seizures. Participating companies sponsor the cost of testing using the Invitae Epilepsy Panel, which analyzes more than 180 genes associated with causes of epilepsy and other neurodegenerative conditions. Results are available in two weeks, on average.“We applaud these companies for their commitment to expanding this unique effort to help children,” Nussbaum added.
Encoded therapeutics, one of the new program sponsors, has been working to advance ext101, a gene therapy for scn1a-positive Dravet syndrome. The therapy is designed to restore the expression levels of the scn1a gene within the affected gabaergic inhibitory neurons. The majority of Dravet are caused by loss of function mutations in scn1a, leading to uncontrolled seizures, developmental delays, and other conditions.
Stoke therapeutics, meanwhile, is developing stk-001, an antisense oligonucleotide that that could become the first disease-modifying therapy to address the genetic cause of Dravet. This drug has received orphan drug designation from the food and drug administration.
“Specific drugs for specific genes are starting to take hold and the epilepsy community is very excited,” said Dixon-Salazar. “This is something that patients really want.”
Third parties and commercial organizations can receive de-identified patient data as well as contact information for participating healthcare providers, but no patient-identifiable data.“We are not having a lot of discussions about privacy because our kids are really sick,” Dixon-Salazar explains. “The rare community is thrilled about this. My secret hope is that they will keep upping the age of eligibility for the program.”