Dravet syndrome Nervous System Diseases Epilepsy
Conditions
Interventions
This study is a Phase I/IIa open-label study consisting of three dose cohorts (cohorts 1, 2 and 3) with the option to include two additional cohorts. The proposed dosing levels for the cohorts are 30
Sponsors
Stoke Therapeutics, Inc
Eligibility
Sex/Gender
All
Age
2 Years to 17 Years
Inclusion criteria
Inclusion criteria: 1. Patient must be between 2 and <18 years of age at Screening 2. Diagnosis of Dravet Syndrome (DS) with onset of recurrent focal motor or hemiconvulsive or generalized tonic-clonic seizures prior to 12 months of age, which are often prolonged and triggered by hyperthermia 2.1. No history of causal MRI lesion 2.2. No other known aetiology 2.3. Normal development at seizure onset 3. Documented pathogenic, likely pathogenic variant, or variant of uncertain significance in the SCN1A gene associated with DS 4. Use of at least two prior treatments for epilepsy that either had lack of adequate seizure control (requiring an additional antiepileptic drug [AED] or had to be discontinued due to an adverse event [AE]) 5. Currently taking at least one AED at a dose which has been stable for at least 4 weeks prior to Screening 6. Stable epilepsy medications or interventions for epilepsy (including ketogenic diet or vagal nerve stimulator) for at least 4 weeks prior to Screening
Exclusion criteria
Exclusion criteria: 1. Known pathogenic mutation in another gene that causes epilepsy 2. Currently treated with an AED acting primarily as a sodium channel blocker, as maintenance treatment, including: phenytoin, carbamazepine, oxcarbazepine, lamotrigine, lacosamide, or rufinamide 3. Clinically significant unstable medical conditions other than epilepsy 4. Clinically relevant symptoms or a clinically significant illness in the 4 weeks prior to Screening or prior to dosing on Day 1, other than epilepsy 5. History of brain or spinal cord disease (other than epilepsy or DS), or history of bacterial meningitis or brain malformation 6. Spinal deformity or other condition that may alter the free flow of cerebrospinal fluid (CSF) or has an implanted CSF drainage shunt 7. Any other significant disease or disorder which, in the opinion of the Investigator, may either put the patient at risk because of participation in the study, may influence the results of the study, or may affect the patient's ability to participate in the study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Safety and tolerability of multiple doses of STK-001 from screening (day -28) until 6 months after multiple drug dosing, measured using: 1.1. Incidence of adverse events 1.2. Incidence of abnormal vital signs 1.3. Abnormal physical examination findings 1.4. Abnormal 12-lead electrocardiogram (ECG) 1.5. Abnormal laboratory parameters 2. Pharmacokinetic (PK) parameters measured by analysis of plasma concentrations of STK-001 using hybridization ELISA from day 1 (dosing) until 6 months after multiple drug dosing 3. Exposure of STK-001 in cerebrospinal fluid (CSF) by measurement of STK-001 concentrations using hybridization ELISA from day 1 (dosing) until 6 months after multiple drug dosing | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Seizure frequency measured using a paper diary from screening (day -28) until 6 months after multiple drug dosing 2. Overall clinical status measured by the Caregiver Global Impression of Change Scale from baseline (day -1) until 6 months after multiple drug dosing 3. Overall clinical status as measured by the Clinician-assessed Global Impression of Change Scale from baseline (day -1) until 6 months after multiple drug dosing 4. Quality of life measured by EuroQoL-five dimensions, youth version (EQ-5D-Y) from baseline (day -1) until 6 months after multiple drug dosing | — |
Countries
England, Scotland, United Kingdom
Contacts
Public ContactStoke Therapeutics General Mailbox
Outcome results
None listed