Clinical Trial: Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: A Phase 2 Randomized, Double-Masked Placebo-Controlled Crossover Safety and Tolerability Study of Ataluren for Drug Resistant Epilepsy in Patients With Nonsense Mutation CDKL5 or

Brief Summary: This is a phase 2, crossover study of Ataluren for the treatment of nonsense mutation Dravet syndrome or cyclin-dependent kinase-like 5 (CDKL5) deficiency, resulting in drug-resistant epilepsy. Patients will receive 12 weeks of ataluren or placebo during each treatment period. Treatment Period 1 will be followed by a 4-week Washout Period. Based on ataluren PK and pharmacodynamic data, the 4-week washout period is deemed an appropriate length of time to eliminate any ataluren drug effects. Following the Washout Period, patients will crossover to receive the opposite treatment during Treatment Period 2 as follows: Patients receiving ataluren during Treatment Period 1 will receive placebo during Treatment Period 2. Patients receiving placebo during Treatment Period 1 will receive ataluren during Treatment Period 2.

Detailed Summary: Investigators will try to characterize the safety profile of ataluren in patients with CDKL5 or Dravet syndrome resulting from a nonsense mutation and evaluate changes in convulsive and/or drop seizure frequency from Baseline following ataluren treatment in patients with CDKL5 or Dravet syndrome resulting from a nonsense mutation. Investigators will measure changes in minor seizure types (absence, myoclonic, complex partial/focal dyscognitive) following ataluren treatment in patients with CDKL5 or Dravet syndrome resulting from a nonsense mutation and changes from Baseline in cognitive, motor, and behavioral function as well as QOL following ataluren treatment in patients with CDKL5 or Dravet syndrome resulting from a nonsense mutation.
Sponsor: New York University School of Medicine

Current Primary Outcome:

  • Number of adverse events and serious adverse events related to ataluren [ Time Frame: Baseline to 3 months ]
  • Number of adverse events and serious adverse events related to ataluren [ Time Frame: 3 months to 6 months ]
  • Number of adverse events and serious adverse events related to ataluren [ Time Frame: 6 months to 1 year ]


Original Primary Outcome: Same as current

Current Secondary Outcome: Seizure frequency from baseline after ataluren treatment in patients w/ CDKL5 or Dravet from daily seizure diary. [ Time Frame: Baseline, 3 months, 6 months, and 1 year ]

Original Secondary Outcome: Same as current

Information By: New York University School of Medicine

Dates:
Date Received: April 4, 2016
Date Started: November 2016
Date Completion: December 2019
Last Updated: November 22, 2016
Last Verified: November 2016