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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/study/NCT05011851
Registration number
NCT05011851
Ethics application status
Date submitted
5/08/2021
Date registered
18/08/2021
Date last updated
31/01/2025
Titles & IDs
Public title
An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome
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Scientific title
An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome
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Secondary ID [1]
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NEU-2591-AS-001
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Universal Trial Number (UTN)
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Trial acronym
AS-001
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Angelman Syndrome
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Condition category
Condition code
Human Genetics and Inherited Disorders
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Other human genetics and inherited disorders
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Neurological
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Other neurological disorders
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Other
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Research that is not of generic health relevance and not applicable to specific health categories listed above
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Intervention/exposure
Study type
Interventional
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Description of intervention(s) / exposure
Treatment: Drugs - NNZ-2591
Experimental: NNZ-2591 - NNZ-2591 oral solution (50mg/mL) to be administered twice daily for 13 weeks.
Treatment: Drugs: NNZ-2591
NNZ-2591 oral solution (50mg/mL) to be administered twice daily for 13 weeks.
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Intervention code [1]
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Treatment: Drugs
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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Safety and Tolerability
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Assessment method [1]
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To examine the incidence, severity and frequency of adverse events (AEs), including serious adverse events (SAEs) during treatment with NNZ-2591.
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Timepoint [1]
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13 weeks
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Primary outcome [2]
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Pharmacokinetic - Typical AUC24 of 30kg Child
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Assessment method [2]
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Area under the concentration-time curve of NNZ-2591 over 24 hours
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Timepoint [2]
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13 weeks
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Primary outcome [3]
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Pharmacokinetic - Typical t1/2 in 30 kg Child
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Assessment method [3]
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Apparent terminal elimination half-life of NNZ-2591
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Timepoint [3]
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13 weeks
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Secondary outcome [1]
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Angelman syndrome-specific Clinical Global Impression Scale-Overall Improvement (CGI-I)
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Assessment method [1]
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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
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Timepoint [1]
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13 weeks
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Secondary outcome [2]
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Caregiver Impression of Improvement : Overall Score
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Assessment method [2]
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Caregiver Impression of Improvement: Overall Score. Measured on a 7-point Likert scale (1-7) where lower scores are better.
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Timepoint [2]
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13 weeks
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Secondary outcome [3]
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Angelman syndrome-specific Clinical Global Impression Scale - Severity (CGI-S): Overall Score
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Assessment method [3]
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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.
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Timepoint [3]
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13 weeks
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Secondary outcome [4]
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Angelman syndrome Clinician Domain Specific Rating Scale (AS-DSRS)
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Assessment method [4]
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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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Timepoint [4]
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13 weeks
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Secondary outcome [5]
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Caregiver Top 3 Concerns
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Assessment method [5]
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Caregiver Top 3 Concerns: Change from baseline in Average Concerns Severity.
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Timepoint [5]
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13 weeks
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Secondary outcome [6]
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MacArthur-Bates Communicative Development Inventory (MB-CDI)
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Assessment method [6]
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MacArthur-Bates Communicative Development Inventory (MB-CDI)
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Timepoint [6]
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13 weeks
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Secondary outcome [7]
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Observer-Reported Communication Ability (ORCA)
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Assessment method [7]
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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
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Timepoint [7]
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13 weeks
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Secondary outcome [8]
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Aberrant Behavior Checklist-2 (ABC-2)
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Assessment method [8]
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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.
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Timepoint [8]
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13 weeks
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Secondary outcome [9]
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Child Sleep Habits Questionnaire (CSHQ)
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Assessment method [9]
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Child Sleep Habits Questionnaire (CSHQ). Change from baseline in total score. Range of scores was (33-99) with higher scores being worse
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Timepoint [9]
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13 weeks
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Secondary outcome [10]
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Gastrointestinal Health Questionnaire (GIHQ)
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Assessment method [10]
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Gastrointestinal Health Questionnaire (GIHQ)
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Timepoint [10]
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13 weeks
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Secondary outcome [11]
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Vineland Adaptive Behavior Scales-3, Interview version
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Assessment method [11]
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Vineland Adaptive Behavior Scales-3, Interview version; Composite standard score
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Timepoint [11]
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13 weeks
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Secondary outcome [12]
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Exploratory efficacy measurement
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Assessment method [12]
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Assessed by Bayley Scales of Infant Development-4, Vineland Motor subscales
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Timepoint [12]
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13 weeks
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Secondary outcome [13]
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Quality of Life Inventory-Disability (QI-Disability)
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Assessment method [13]
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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
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Timepoint [13]
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13 weeks
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Secondary outcome [14]
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Impact of Childhood Neurological Disability (ICND)
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Assessment method [14]
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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
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Timepoint [14]
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13 weeks
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Eligibility
Key inclusion criteria
1. Clinical diagnosis of AS with a documented disease-causing genetic etiology known to impact maternally derived UBE3A expression in brain.
2. Males or females aged 3-17 years
3. Body Weight of >12Kg
4. Subjects with a Clinical Global Impression - Severity (CGI-S) score of 3 or greater
5. Not actively undergoing regression or loss of skills, defined as no persistent loss of previously acquired developmental skills for a period within 3 months of the Screening visit
6. Each subject must be able to swallow the study medication provided as a liquid solution.
7. Caregiver(s) must have sufficient English language skills.
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Minimum age
3
Years
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Maximum age
17
Years
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Sex
Both males and females
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Can healthy volunteers participate?
No
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Key exclusion criteria
1. Mosaicism for disease-causing mutation.
2. Clinically Significant abnormalities in safety laboratory testing or vital signs at screening
3. Abnormal QTcF interval or prolongation at Screening.
4. Positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and previous COVID 19 infection with last 12 months that required hospitalization.
5. Unstable or changes to Psychotropic treatment 2 weeks prior to screening .
6. Excluded concomitant treatments
7. Actively undergoing regression or loss of skills.
8. Unstable seizure profile.
9. Current clinically significant renal conditions and abnormalities
10. Current clinically significant cardiovascular, hepatic, gastrointestinal, respiratory, endocrine disease, or clinically significant organ impairment.
11. Current clinically significant hypo or hyperthyroidism, Type 1 or Type 2 diabetes mellitus requiring insulin (whether well controlled or uncontrolled), or uncontrolled Type 1 or Type 2 diabetes.
12. Has planned surgery during the study.
13. History of, or current, cerebrovascular disease or brain trauma.
14. History of, or current catatonia or catatonia-like symptoms.
15. History of, or current, malignancy.
16. Current major or persistent depressive disorder (including bipolar depression).
17. Significant, uncorrected visual or uncorrected hearing impairment.
18. Allergy to strawberry.
19. Positive pregnancy test
20. Subject is judged by the Investigator or Medical Monitor to be inappropriate for the study
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Study design
Purpose of the study
Treatment
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Allocation to intervention
Not applicable
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Procedure for enrolling a subject and allocating the treatment (allocation concealment procedures)
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Methods used to generate the sequence in which subjects will be randomised (sequence generation)
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Masking / blinding
Open (masking not used)
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Who is / are masked / blinded?
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Intervention assignment
Single group
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Other design features
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Phase
Phase 2
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Type of endpoint/s
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Statistical methods / analysis
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Recruitment
Recruitment status
Completed
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
12/07/2022
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
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Actual
16/07/2024
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Sample size
Target
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Accrual to date
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Final
17
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Recruitment in Australia
Recruitment state(s)
NSW,QLD,VIC
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Recruitment hospital [1]
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Sydney Children's Hospital - Randwick
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Recruitment hospital [2]
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Centre for Clinical Trials in Rare Neurodevelopmental Disorders at Children's Health Queensland Hospital and Health Service - South Brisbane
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Recruitment hospital [3]
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Austin Health - Heidelberg
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Recruitment postcode(s) [1]
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2031 - Randwick
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Recruitment postcode(s) [2]
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4101 - South Brisbane
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Recruitment postcode(s) [3]
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3084 - Heidelberg
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Funding & Sponsors
Primary sponsor type
Commercial sector/industry
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Name
Neuren Pharmaceuticals Limited
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Address
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Country
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Ethics approval
Ethics application status
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Summary
Brief summary
A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Angelman syndrome
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Trial website
https://clinicaltrials.gov/study/NCT05011851
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Trial related presentations / publications
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Public notes
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Contacts
Principal investigator
Name
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James Shaw
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Address
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Neuren Pharmaceuticals
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Country
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Phone
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Fax
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Email
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Contact person for public queries
Name
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Fernanda Cecchin
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Address
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Country
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Phone
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+61 2 9171 3274
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Fax
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Email
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[email protected]
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Contact person for scientific queries
Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
No
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No/undecided IPD sharing reason/comment
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What supporting documents are/will be available?
No Supporting Document Provided
Results publications and other study-related documents
No documents have been uploaded by study researchers.
Results not provided in
https://clinicaltrials.gov/study/NCT05011851
Download to PDF