REVEAL: A Phase 3 Study of ION582 in Angelman Syndrome

Launched by IONIS PHARMACEUTICALS, INC. · Mar 31, 2025

Keywords

ClinConnect Summary

The REVEAL clinical trial is looking to find out if a new treatment called ION582 is safe and effective for children and adults with Angelman syndrome, a genetic condition caused by changes to a specific gene called UBE3A. This study is currently not recruiting participants but will involve individuals aged 2 to 50 years old who have been diagnosed with Angelman syndrome due to a deletion or mutation of the UBE3A gene. To participate, caregivers need to provide written consent, and the participants must be stable enough to undergo certain medical procedures without needing breathing support.

Eligible participants should be on stable doses of medications typically used for managing Angelman syndrome for at least two months before joining the study. Throughout the trial, participants will be monitored closely to ensure their safety and to gather information about how well ION582 works. It's important that caregivers agree to keep any personal medical information private during the study. If you're considering participating or want to know more, it’s a good idea to talk with your healthcare provider.

Gender

ALL

Eligibility criteria

• Key Inclusion Criteria:
• • 1. The participants caregiver(s)/ legally authorized representative must have given written informed consent and any authorizations required by local law and be able to comply with all study requirements.
• • 2. Medically stable and can undergo sedation and/or general anesthesia without intubation.
• • 3. Male or female between 2 and lesser than or equal to (≤)50 years of age, depending on specific cohort, at the time of the in-clinic Screening visit.
• • 4. Participant has a documented diagnosis of Angelman syndrome (AS) due to either 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.
• • 6. Legally authorized representative/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, Twitter, YouTube, TikTok, etc.) from the time of enrollment until they are notified that the study is completed.
• Key Exclusion Criteria:
• • 1. 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.
• • 2. 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.
• • 3. 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.
• • 4. 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.
• • 5. Previous treatment with an oligonucleotide (including small interfering ribonucleic acid (RNA) \[siRNA\], ASOs) or gene therapy. This exclusion criterion does not apply to coronavirus disease 2019 (COVID-19) vaccinations, which are allowed.
• • 6. Has documented molecular AS confirmation of paternal uniparental disomy or imprinting center defect.
• • Other inclusion/exclusion criteria may apply.