Ataluren for Nonsense Mutation in CDKL5 and Dravet Syndrome
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The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. |
ClinicalTrials.gov Identifier: NCT02758626 |
Recruitment Status :
Active, not recruiting
First Posted : May 2, 2016
Last Update Posted : October 23, 2020
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Condition or disease | Intervention/treatment | Phase |
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Epilepsy | Drug: ataluren Drug: Placebo | Phase 2 |
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 16 participants |
Allocation: | Randomized |
Intervention Model: | Crossover Assignment |
Masking: | Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor) |
Primary Purpose: | Treatment |
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 Dravet Syndrome |
Study Start Date : | November 2016 |
Estimated Primary Completion Date : | January 2021 |
Estimated Study Completion Date : | March 2021 |

Arm | Intervention/treatment |
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Active Comparator: Ataluren Followed By Placebo
Cross Over Design: Treatment Period 1 with Ataluren (Week 0/Day 1 to Week 12), Washout Period (Week 12 to Week 16), crossover to Placebo Treatment Period 2 (Week 16 to Week 28), and Follow-up (Week 28 to Week 32).
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Drug: ataluren
Powder formulation
Other Name: PTC124 Drug: Placebo Powder formulation |
Active Comparator: Placebo Followed by Ataluren
Treatment Period 1 with Placebo (Week 0/Day 1 to Week 12), Washout Period (Week 12 to Week 16), crossover to Treatment Period 2 with Ataluren(Week 16 to Week 28).
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Drug: ataluren
Powder formulation
Other Name: PTC124 Drug: Placebo Powder formulation |
- 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 ]
- 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 ]
- Change from baseline in cognitive behavior measured by Behavior Assessment System for Children [ Time Frame: Baseline, 3 months and 6 months ]Clinical and adaptive measures of personality and behavior using the Behavior Assessment System for Children: Third Edition (Sabaz 2003)
- Quality of Life (QOL) as assessed by the Quality of Life in Childhood Epilepsy (QOLCE) (Sabaz 2003) [ Time Frame: Baseline, 3 months and 6 months ]

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Ages Eligible for Study: | 2 Years to 12 Years (Child) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- Age ≥ 2 years old and ≤ 12 years old, male or female, at Week 0 (at time informed consent/assent is signed)
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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
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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).
- VNS must be on stable settings for a minimum of 3 months prior to the Baseline visit
- If on ketogenic or modified Atkins diet, must be on stable ratio for a minimum of 3 months prior to the Baseline visit
- Written consent obtained from the patient or patient's legal representative must be obtained prior to performing any study procedures
- 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.
Exclusion Criteria:
- Patient is < 2 years old or ≥ 12 years old
- Epilepsies associated with genetic disorders other than Dravet syndrome or CDKL5 deficiency
- Patient has Dravet or CDKL5 genetic mutations that are NOT nonsense mutations
- Felbatol has been initiated within the past 12 months prior to the Screening Visit
- Patients who are currently or have participated in clinical trials in the 30 days prior to enrollment (Baseline Visit)
- Prior or ongoing medical condition (eg, concomitant illness, psychiatric condition), medical history, physical findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the patient, makes it unlikely that the course of study drug administration or follow-up would be completed, or could impair the assessment of study results.
- Ongoing intravenous administration of aminoglycosides or vancomycin.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02758626
United States, New York | |
New York University School of Medicine | |
New York, New York, United States, 10016 |
Principal Investigator: | Orrin Devinsky, MD | NYU |
Responsible Party: | NYU Langone Health |
ClinicalTrials.gov Identifier: | NCT02758626 |
Other Study ID Numbers: |
15-00426 |
First Posted: | May 2, 2016 Key Record Dates |
Last Update Posted: | October 23, 2020 |
Last Verified: | October 2020 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Epilepsy Epilepsies, Myoclonic Brain Diseases Central Nervous System Diseases |
Nervous System Diseases Epilepsy, Generalized Epileptic Syndromes |