To evaluate the efficacy of open-label ganaxolone as adjunctive therapy for uncontrolled seizures in female children with PCDH19 mutation and other rare genetic epilepsies in an open-label proof-of-concept study.
The purpose of this proof-of-concept study is to evaluate ganaxolone as adjunctive therapy for uncontrolled seizures in female children with PCDH19 mutations and other rare genetic epilepsies. After establishing baseline seizure frequency, qualifying subjects will enter the study and be treated with open-label ganaxolone for up to six months.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
PREVENTION
Masking
NONE
Enrollment
30
oral suspension or capsules
Phoenix Children's Hospital
Phoenix, Arizona, United States
Sutter Institute for Medical Research
Sacramento, California, United States
University of California San Francisco
San Francisco, California, United States
Summary of 28-day Seizure Frequency for Sum of Individual Seizures and Clusters for 52-week OLE Period (Mean Percent Change & Standard Deviation)
Percentage change from baseline in 28-day seizure frequency at 3 months (day 91), 26 weeks, 52 week OLE (Mean Percent Change \& Standard Deviation)
Time frame: Baseline through 52 week open label period
Summary of 28-day Seizure Frequency for Sum of Individual Seizures and Clusters Through 52-week OLE (Median Percent Change)
Percentage change from baseline in 28-day seizure frequency at 3 months (day 91), 26 weeks, 52 week OLE (Median Percent Change)
Time frame: Baseline through 52-week open- label period
Summary of CGII-C
Clinician Global Impression of Change score as assessed by questionnaire. \[ Time Frame: 78 Weeks \] CGII-C scale is qualitative values and not quantitative.
Time frame: End of Week 4, End of Week 8, End of Week 17, End of Week 26, Week 44, Week 62, Week 78
Summary of CGII-P
Patient Global Impression of Change score as assessed by questionnaire. \[ Time Frame: 78 Weeks \] CGII-P scale is qualitative values and not quantitative.
Time frame: Patient Global Impression of Change score as assessed by questionnaire. [ Time Frame: 78 Weeks ]
Number of Participants With Responder Rate of Seizure Frequency
Responder Rate in Terms of 28-day Seizure Frequency Based on the Sum of Individual Seizures and Clusters
Time frame: Month 3 and Week 26
Mean Percentage Change of Individual Seizure-free Days
Mean Percentage Change of Individual Seizure-free days per 28-day period (through 52-week OLE) period relative to baseline
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Center for Rare Neurological Diseases
Norcross, Georgia, United States
JWM Neurology
Indianapolis, Indiana, United States
Boston Children's Hospital
Boston, Massachusetts, United States
Northeast Regional Epilepsy Group
Hackensack, New Jersey, United States
Institute of Neurology and Neurosurgery at St. Barnabas
Livingston, New Jersey, United States
Nationwide Children's Hospital
Columbus, Ohio, United States
Bambino Gesu Children's Hospital, IRCCS
Rome, Italy
Time frame: Baseline, Day 91, Week 26, 52-week OLE through month 6, 52-week OLE Period