Our Work in Dravet
ADDRESSING A SIGNIFICANT UNMET NEED
Stoke’s initial focus is the treatment of genetic epilepsies. Epilepsy is the fourth most common neurologic disease and affects more than 50 million people worldwide. More than 50% of epilepsies have a genetic basis and more than 30% of patients are resistant to existing therapies. Many of these patients have haploinsufficiencies that we believe are amenable to our technology platform. Symptoms include not only refractory seizures but also severe cognitive and developmental delays and other neurological comorbidities. Current treatments for Dravet syndrome only address the occurrence of seizures. There are no medicines available to treat the underlying cause of any genetic epilepsy.
Our lead program addresses Dravet syndrome, a severe and progressive genetic epilepsy that affects roughly 35,000 patients across the U.S., Canada, Japan, Germany, France and the United Kingdom; it is not concentrated in a particular geographic area or ethnic group. Currently, Dravet patients are typically treated with multiple antiepileptic drugs. Unfortunately, these therapies do not adequately control seizures in 90% of patients, and they do not address other aspects of the disease, including cognitive regression or developmental stagnation, ataxia, speech impairment, sleep disturbances and an increased risk of sudden unexpected death in epilepsy (SUDEP). There are no genetically-targeted therapies currently available to address the underlying cause of Dravet syndrome.
Approximately 85% of Dravet syndrome cases are caused by spontaneous, heterozygous loss of function mutations in a gene called SCN1A. This gene encodes the voltage-gated sodium channel type 1 alpha subunit (NaV1.1). By upregulating NaV1.1 protein expression from the non-mutant copy of the SCN1A gene in patients, Stoke hopes to provide the first gene-specific, disease-modifying approach to prevent the occurrence of seizures and reduce significant non-seizure comorbidities, including developmental deficits.
CLINICAL STUDY INFORMATION
MONARCH Phase 1/2a
MONARCH is a Phase 1/2a open-label study of children and adolescents ages 2 to 18 who have an established diagnosis of Dravet syndrome and have evidence of a pathogenic genetic mutation in the SCN1A gene. The primary objectives will be to assess the safety and tolerability of STK-001, as well as to characterize human pharmacokinetics. The study is designed to enroll approximately 40 patients at 20 sites in the U.S.
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BUTTERFLY is an observational study of Dravet syndrome patients initiated by Stoke. This non-interventional two-year study, being conducted at approximately 20 sites in the U.S., observes patients ages 2-18 years with mutations in the SCN1A gene.
Epilepsy Gene Panel Testing Program
As the potential for precision therapies in epilepsy becomes clear, genetic testing for patients is critical. Stoke Therapeutics is part of an innovative, cross-company collaboration founded by Invitae and BioMarin that aims to provide faster diagnosis for young children with epilepsy. The collaboration sponsors a no-cost epilepsy gene panel testing program for health care providers (HCPs) to order for any child up to the age of 8 years old who has had an unprovoked seizure.
HCPs can find out more about the program at BehindTheSeizure.com.