2024-519711-33-01招募中3 期
REVEAL Study: Phase 3 Study of the Efficacy and Safety of ION582 in Children and Adults with Angelman Syndrome
适应症
干预措施
试验速览
- 阶段
- 3 期
- 状态
- 招募中
- 入组人数
- 30
- 试验地点
- 8
- 主要终点
- Change in performance on the Expressive Communication subdomain raw score of the Bayley Scales for Infant and Toddler Development-4 (Bayley-4) without caregiver input in Cohort 1 [Time Frame: Baseline and Week 52]
研究概览
简要总结
The purpose of this study is to evaluate the efficacy and safety of ION582 in children and adults with Angelman syndrome caused by a deletion or mutation of the UBE3A gene.
入排标准
- 年龄范围
- 0 years 至 64 years（0-17 Years, 18-64 Years）
- 接受健康志愿者
- 否
入选标准
- •The participants caregiver(s)/ legally-authorized representative (LAR) must have given written informed consent and any authorizations required by local law and be able to comply with all study requirements.
- •Medically stable and can undergo sedation and/or general anesthesia without intubation.
- •Male or female between 2 and ≤50 years of age, depending on specific cohort, at the time of the in-clinic Screening visit.
- •Participant has a clinical diagnosis of Angelman syndrome (AS) with molecular confirmation of either a Ubiquitin-protein ligase E3A (UBE3A) deletion or UBE3A mutation.
- •5.Currently receiving stable doses of concomitant medications typically prescribed for AS, such as anti-epileptic medication, behavioral management medications, sleep medications, gabapentin, cannabidiol, and special diets, supplements, or nutritional support for at least 8 weeks prior to the Baseline visit.
- •LAR/caregiver(s) agree(s) not to post any of the participant’s personal medical data or information related to the study on any website or social media site (e.g., Facebook, Instagram, X (formerly Twitter), YouTube, TikTok, etc.) from the time of enrollment until they are notified that the study is completed.
排除标准
- •Must not have any clinically significant abnormalities in medical history (e.g., major surgery within 3 months of screening), or on physical examination for which treatment with an antisense oligonucleotide (ASO) would be contraindicated or which, in the opinion of the Principal Investigator (PI), could confound the results of this study.
- •Known brain or spinal disease that would interfere with the lumbar puncture (LP) procedure, cerebrospinal fluid (CSF) circulation, or presence of other factors would affect the safety of the LP procedure.
- •Must not have any other conditions, which, in the opinion of the Investigator, would make the participant unsuitable for inclusion or could interfere with the participant participating in or completing the study.
- •Must not have any laboratory abnormalities or any other clinically significant abnormalities that would, as assessed by the Investigator, at screening or Baseline, render a participant unsuitable for inclusion.
- •Previous treatment with an oligonucleotide (including small interfering ribonucleic acid (RNA) [siRNA], ASOs) or gene editing. This exclusion criterion does not apply to approved nucleic acid-based vaccines, including mRNA vaccines, which are allowed.
- •Has molecular confirmation of AS due to paternal uniparental disomy, imprinting defect, or mosaic findings.
研究组 & 干预措施
ION582
Test
干预措施: ION582 (Drug)
结局指标
主要结局
Change in performance on the Expressive Communication subdomain raw score of the Bayley Scales for Infant and Toddler Development-4 (Bayley-4) without caregiver input in Cohort 1 [Time Frame: Baseline and Week 52]
Change in performance on the Expressive Communication subdomain raw score of the Bayley Scales for Infant and Toddler Development-4 (Bayley-4) without caregiver input in Cohort 1 [Time Frame: Baseline and Week 52]
次要结局
- 1. Change in Bayley Scales for Infant and Toddler Development-4 (Bayley-4): Cognition Subdomain Raw Score without caregiver input [Time Frame: Baseline and Week 52]
- 2. Change in Symptoms of Angelman Syndrome -Clinician Global Impression of Change (SAS-CGI-C): Overall AS [Time Frame: Baseline and Week 52]
- 3. Change in Vineland Adaptive Behavior Scale-3 (Vineland-3): Receptive Communication Subdomain Raw Score [Time Frame: Baseline and Week 52]
- 4. Change in Vineland Adaptive Behavior Scale-3 (Vineland-3): Daily Living Skills, Personal Subdomain Raw Score [Time Frame: Baseline and Week 52]
- 5. Change in Symptoms of Angelman Syndrome - Clinician Global Impression of Change (SAS-CGI-C): Sleep Problems [Time Frame: Baseline and Week 52]
- 6. Change in Bayley Scales for Infant and Toddler Development-4 (Bayley-4): Fine Motor Subdomain Raw Score without caregiver input [Time Frame: Baseline to Week 52]
- 7. Change in Observer-Reported Communication Ability (ORCA): Overall Emerging T score [Time Frame: Baseline and Week 52]
- 8. Percentage of Participants with Treatment-emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs) [Time Frame: Up to Week 52]
- 9. Change in Vital Signs and Clinical Laboratory Results [Time Frame: Baseline and Week 52]
研究者
Global Regulatory Affairs
Scientific
Ionis Pharmaceuticals Inc.
研究点 (8)
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