Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome

Inclusion Criteria

• •1. Age ≥ 2 years old and ≤ 12 years old, male or female, at Week 0 (at time informed consent/assent is signed)
• •2. Documentation of a diagnosis of Dravet syndrome or CDKL5 deficiency resulting from a nonsense mutation in 1 allele, as evidenced by medical records, genetic testing, and the following clinical feature:
• •a. Failure to control seizures despite appropriate trial of 2 or more AEDs at therapeutic doses
• •3. Between 1 to 3 baseline AEDs at stable doses for a minimum for 4 weeks prior to the Baseline visit
• •a. Vagus nerve stimulator (VNS), ketogenic diet, and modified Atkins diet do not count towards this limit but must be unchanged for 3 months prior to enrollment (Baseline).
• •4. VNS must be on stable settings for a minimum of 3 months prior to the Baseline visit
• •5. If on ketogenic or modified Atkins diet, must be on stable ratio for a minimum of 3 months prior to the Baseline visit
• •6. Written consent obtained from the patient or patient's legal representative must be obtained prior to performing any study procedures
• •7. Minimum of 6 convulsive or drop seizures with duration \> 3 seconds over the 4 weeks of diary screening prior to randomization and ≥ 6 convulsive or drop seizures with duration \> 3 seconds during the 4 weeks from Screening to Baseline.