PHILADELPHIA — The next phase of personalized medicine in epilepsy may be therapy that is tested and targeted to the specific genetic mutation causing an individual’s seizure disorder.
A new genetic research company is the first to pair expertise in rare disease genomics with advanced analytics to provide healthcare professionals with an extensive and highly personalized evaluation on individual epilepsy patients.
Medscape Medical News spoke to Pairnomix CEO Matthew Fox during the American Epilepsy Society (AES) 69th Annual Meeting to discuss this new initiative.
According to Fox, no other company is providing this kind of precision medicine in epilepsy. The aim, he explained, is to help patients who have already been diagnosed with epilepsy and have undergone sequencing.
Scientists then replicate the mutation that has been identified, characterize it, and test drugs on it.
“Individuals who have a rare mutation that is causing their seizures in the epilepsy setting, who have nowhere to go once their mutation has been identified, can now contact us,” said Fox.
“We will take that mutation into a laboratory setting and create a replica of it. We will characterize the mutation, and we will test compounds against the mutation that might restore activity to normal.”
The company then reports this information back to the treating physician, who will ultimately make the treatment decisions along with the patient.
An estimated 2% to 4% of childhood epilepsies are genetically based. Researchers are discovering more genetic causes of epilepsies all the time.
Pairnomix’s advisory board has many heavyweights in the field of genetics, neurology, and electrophysiology. One member is epilepsy expert Orrin Devinsky, MD, professor, neurology, and director, New York University Comprehensive Epilepsy Center.
Dr Devinsky says the advantage of this new initiative is that it incorporates a targeted approach to epilepsy therapy that accelerates the process of finding an effective therapy.
Once an initial model is developed with the specific gene of interest, “multiple drugs can be screened that might be predicted to work.” For example, if a channel disorder is identified, specific calcium channel inhibitors could be tested.
If there are promising results here, the drug or drugs would then be further tested on a mouse model, he said.
“This is a precision approach where we take a specific mutation, a specific gene, and try to assess what’s the biological effect and then how best to treat that,” said Dr Devinsky. “It’s more focused and hypothesis driven, and getting to a potential therapy much sooner for a specific mutation.”
The drugs that will be tested in these models will have human safety data, stressed Dr Devinsky. “We will not be taking a drug off the shelf that has never been given to a human before; because even if works, it would be so hard to get it to a patient.”
The number of epilepsy treatment options is “in the hundreds” now, he said.
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