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Trial · Interventional

CompletedPhase 2Registry data

An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome

Short name AS-001

NCTNCT05011851 (opens ClinicalTrials.gov in a new tab)Other idNEU-2591-AS-001
Open at ClinicalTrials.govAsk about this trial

Overview

Status
Completed
Phase
Phase 2
Enrollment
17 participants (actual)
Sponsor
Neuren Pharmaceuticals Limited · Industry
Design
Allocation not applicable · Open label (no masking)
Countries
1 country

Australia

Start
12 Jul 2022
Primary completion
13 May 2024
Completion
16 Jul 2024
First posted
18 Aug 2021
Last update posted
31 Jan 2025
Conditions
Angelman Syndrome

Timeline

1 trial · 1 completed

  • Completed
  • Ongoing
  • Not yet recruiting
  • Stopped
  • Estimated dates (est.)
  • Results posted
2022202320242025
  1. Ph 2

    AS-001

    NCT05011851

    12 Jul 2022 to 16 Jul 2024

Registry summary

Text and fields below are the sponsor's entries at ClinicalTrials.gov, shown as posted.

A study of the safety, tolerability and pharmacokinetics of NNZ-2591 and measures of efficacy in children and adolescents with Angelman syndrome

Interventions

  • NNZ-2591Drug

Arms1

  • Experimental

    NNZ-2591

    NNZ-2591 oral solution (50mg/mL) to be administered twice daily for 13 weeks.

Primary outcomes3

Outcomes the sponsor listed as primary.

  1. Safety and Tolerability

    Time frame · 13 weeks

    Registry description

    To examine the incidence, severity and frequency of adverse events (AEs), including serious adverse events (SAEs) during treatment with NNZ-2591.

  2. Pharmacokinetic - Typical AUC24 of 30kg Child

    Time frame · 13 weeks

    Registry description

    Area under the concentration-time curve of NNZ-2591 over 24 hours

  3. Pharmacokinetic - Typical t1/2 in 30 kg Child

    Time frame · 13 weeks

    Registry description

    Apparent terminal elimination half-life of NNZ-2591

Secondary outcomes(14)

  1. Angelman syndrome-specific Clinical Global Impression Scale-Overall Improvement (CGI-I)

    Time frame · 13 weeks

    Registry description

    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

  2. Caregiver Impression of Improvement : Overall Score

    Time frame · 13 weeks

    Registry description

    Caregiver Impression of Improvement: Overall Score. Measured on a 7-point Likert scale (1-7) where lower scores are better.

  3. Angelman syndrome-specific Clinical Global Impression Scale - Severity (CGI-S): Overall Score

    Time frame · 13 weeks

    Registry description

    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.

  4. Angelman syndrome Clinician Domain Specific Rating Scale (AS-DSRS)

    Time frame · 13 weeks

    Registry description

    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.

  5. Caregiver Top 3 Concerns

    Time frame · 13 weeks

    Registry description

    Caregiver Top 3 Concerns: Change from baseline in Average Concerns Severity.

  6. MacArthur-Bates Communicative Development Inventory (MB-CDI)

    Time frame · 13 weeks

    Registry description

    MacArthur-Bates Communicative Development Inventory (MB-CDI)

  7. Observer-Reported Communication Ability (ORCA)

    Time frame · 13 weeks

    Registry description

    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

  8. Aberrant Behavior Checklist-2 (ABC-2)

    Time frame · 13 weeks

    Registry description

    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.

  9. Child Sleep Habits Questionnaire (CSHQ)

    Time frame · 13 weeks

    Registry description

    Child Sleep Habits Questionnaire (CSHQ). Change from baseline in total score. Range of scores was (33-99) with higher scores being worse

  10. Gastrointestinal Health Questionnaire (GIHQ)

    Time frame · 13 weeks

    Registry description

    Gastrointestinal Health Questionnaire (GIHQ)

  11. Vineland Adaptive Behavior Scales-3, Interview version

    Time frame · 13 weeks

    Registry description

    Vineland Adaptive Behavior Scales-3, Interview version; Composite standard score

  12. Exploratory efficacy measurement

    Time frame · 13 weeks

    Registry description

    Assessed by Bayley Scales of Infant Development-4, Vineland Motor subscales

  13. Quality of Life Inventory-Disability (QI-Disability)

    Time frame · 13 weeks

    Registry description

    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

  14. Impact of Childhood Neurological Disability (ICND)

    Time frame · 13 weeks

    Registry description

    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

Posted results

Values are shown as posted at ClinicalTrials.gov, with their units. PepBank has not converted, pooled or compared them.

No results are posted for this trial.

Completed trials do not always post results.

Registry data comes from ClinicalTrials.gov. Study results come from studies, not from the registry. How PepBank works

Studies0

Studies that cite this trial.

No study cites this trial.

Eligibility

Who could join, as posted.

Sex
All
Age
from 3 Years up to 17 Years
Healthy volunteers
Not accepted
Inclusion and exclusion criteria, as posted
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. 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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