Targeting Mutations of Pediatric Genetic Epilepsies Creating New Treatment Options with Alex Nemiroff Praxis Precision Medicines

Alex Nemiroff, General Counsel at Praxis Precision Medicines, focuses on developing life-altering treatments for pediatric patients with epilepsy, particularly those with genetic epilepsies known as Developmental Epileptic Encephalopathies- DEEs.  Praxis targets specific gene mutations SCN2A and SCN8A with therapies that precisely target the source of the disease. Lead drug candidate PRAX-562 is a precision small-molecule treatment that inhibits seizure-causing activity, and PRAX-222 is a type of RNA therapy that shows potential for complete disease modification. Alex explains, "There are a number of types of epilepsy. At Praxis, we focus on a few. We have a broader focal epilepsy program, and then we have a number of programs targeting these genetic epilepsies that are referred to as DEEs, Developmental Epileptic Encephalopathies. These are epilepsies that start in infancy, and they're tied most commonly to a mutation in a gene that is known to cause epilepsy. Specifically, we have at Praxis right now in the clinic, programs aimed at mutations in the SCN2A and SCN8A genes. So these are SCN2A DEEs and SCN8A DEEs."   "What we've tried to do, and it's been the goal of Praxis since its inception, since I got connected to this company, is to target these mutations as close to their source as possible. The name is Praxis Precision Medicines very intentionally because what we believe these medicines are doing is precisely targeting the source of the disease. Relatively speaking, as close as we can get. These are not gene therapies. What we have in our pipeline right now and in the clinic are RNA therapies, which are these antisense oligonucleotide therapies, and then also small molecules that are more precisely targeting key components of the diseases." "This is a big part of where the problem lies because the treatments that exist today, for the most part, are not precise to the specific cause of the disease. What we see with these genetic epilepsies- and again, specifically, we're focused on SCN2A and SCNA8A – there are no treatments other than the ones that Praxis are developing that target these mutations specifically. So what a doctor has to do, and what they did in my son's case and all of these other patients' cases, is they just start throwing these broad-based anti-epileptic medications at the child, and essentially, it's a trial and error process."  #Praxis #Epilepsy #PediatricEpilepsy #SCN2A #SCN8A #CNS praxismedicines.com Download the transcript here