Stopped: Sponsor decision to terminate study early due to sufficient data collected, the study objectives met and defined unmet need and disease trajectory in males with MECP2 duplication syndrome.
The purpose of the study is to prospectively assess longitudinal changes in biomarkers (MECP2, potential biomarkers of target engagement and disease activity) in cerebrospinal fluid (CSF) and blood; characterize longitudinal changes in performance on clinical scales (clinician-reported measures of neurodevelopment and functioning) and caregiver-reported outcome assessments (communication, gastrointestinal, social-emotional-adaptive behavioral measures); evaluate longitudinal changes in caregiver-reported health-related quality-of-life measures; and assess the frequency, type, and severity of seizures over time.
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Change From Baseline in MeCP2 in the CSF
Timeframe: Baseline and on Weeks 13, 26, 39, 52
Laboratory biomarkers for MECP2 Duplication
Timeframe: Baseline and on Weeks 13, 26, 39, 52
Change From Baseline in MECP2 Duplication Syndrome Severity Scale Across All Domains
Timeframe: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in the Revised Motor Behavioral Assessment
Timeframe: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in the Bayley Scales of Infant and Toddler Development, 3rd Edition
Timeframe: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in Vineland Adaptive Behavior Scales 3rd Edition
Timeframe: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in Observer Reported Communication Ability Measure
Timeframe: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in Quality-of-Life Inventory-Disability Score
Timeframe: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in the Frequency of Seizures
Timeframe: Baseline and on Weeks 13, 26, 39, 52, 78, 104
Change From Baseline in Global Assessment of Severity of Epilepsy Scale Score
Timeframe: Baseline and on Weeks 13, 26, 39, 52, 78, 104