A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Angelman syndrome
The primary purpose of this study is to investigate the safety, tolerability and pharmacokinetics of treatment with NNZ-2591 oral solution, 50mg/L, in children and adolescents with Angelman syndrome. The secondary purpose is to investigate measures of efficacy of subjects will receive treatment of 50mg/mL orally administered NNZ-2591 for a total of 13 weeks
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
17
NNZ-2591 oral solution (50mg/mL) to be administered twice daily for 13 weeks.
Sydney Children's Hospital
Randwick, New South Wales, Australia
Centre for Clinical Trials in Rare Neurodevelopmental Disorders at Children's Health Queensland Hospital and Health Service
South Brisbane, Queensland, Australia
Austin Health
Heidelberg, Victoria, Australia
Safety and Tolerability
To examine the incidence, severity and frequency of adverse events (AEs), including serious adverse events (SAEs) during treatment with NNZ-2591.
Time frame: 13 weeks
Pharmacokinetic - Typical AUC24 of 30kg Child
Area under the concentration-time curve of NNZ-2591 over 24 hours
Time frame: 13 weeks
Pharmacokinetic - Typical t1/2 in 30 kg Child
Apparent terminal elimination half-life of NNZ-2591
Time frame: 13 weeks
Angelman syndrome-specific Clinical Global Impression Scale-Overall Improvement (CGI-I)
Assessed by Angelman syndrome-specific Clinical Global Impression Scale-Overall Improvement (CGI-I). Score on a Likert scale (1-7) where lower scores are better
Time frame: 13 weeks
Caregiver Impression of Improvement : Overall Score
Caregiver Impression of Improvement: Overall Score. Measured on a 7-point Likert scale (1-7) where lower scores are better.
Time frame: 13 weeks
Angelman syndrome-specific Clinical Global Impression Scale - Severity (CGI-S): Overall Score
Angelman syndrome-specific Clinical Global Impression Scale-Severity (CGI-S): Change from baseline on overall score based on a 7-point Likert scale (1-7) where lower scores are better.
Time frame: 13 weeks
Angelman syndrome Clinician Domain Specific Rating Scale (AS-DSRS)
Angelman syndrome Clinician Domain Specific Rating Scale (AS-DSRS). Change from baseline in total score based on a 5-point Likert scale (0-4) where lower scores are better.
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Time frame: 13 weeks
Caregiver Top 3 Concerns
Caregiver Top 3 Concerns: Change from baseline in Average Concerns Severity.
Time frame: 13 weeks
MacArthur-Bates Communicative Development Inventory (MB-CDI)
MacArthur-Bates Communicative Development Inventory (MB-CDI)
Time frame: 13 weeks
Observer-Reported Communication Ability (ORCA)
Observer-Reported Communication Ability (ORCA). Change from baseline in modified t-score. Scores range from 25.8 - 83.8 with higher scores indicating greater communication abililty. A positive change from baseline indicates improvement
Time frame: 13 weeks
Aberrant Behavior Checklist-2 (ABC-2)
Aberrant Behavior Checklist-2 (ABC-2) - Change from baseline in total score. Higher scores indicate more behavioral issues. A negative change from baseline indicates improvement.
Time frame: 13 weeks
Child Sleep Habits Questionnaire (CSHQ)
Child Sleep Habits Questionnaire (CSHQ). Change from baseline in total score. Range of scores was (33-99) with higher scores being worse
Time frame: 13 weeks
Gastrointestinal Health Questionnaire (GIHQ)
Gastrointestinal Health Questionnaire (GIHQ)
Time frame: 13 weeks
Vineland Adaptive Behavior Scales-3, Interview version
Vineland Adaptive Behavior Scales-3, Interview version; Composite standard score
Time frame: 13 weeks
Exploratory efficacy measurement
Assessed by Bayley Scales of Infant Development-4, Vineland Motor subscales
Time frame: 13 weeks
Quality of Life Inventory-Disability (QI-Disability)
Quality of Life Inventory-Disability (QI-Disability). Change from baseline inoverall score. Scores range from 0-100 with higher scores indicating better quality of life. A positive change indicates improvement
Time frame: 13 weeks
Impact of Childhood Neurological Disability (ICND)
Impact of Childhood Neurological Disability (ICND): Change from baseline in overall quality of life rating. Scores range from 1-6, with a higher score indicating better quality of life. A positive change from baseline indicates improvement
Time frame: 13 weeks