ION582-CS2 REVEAL
Research type
Research Study
Full title
Phase 3 Study of the Efficacy and Safety of ION582 in Children and Adults with Angelman Syndrome
IRAS ID
1011678
Contact name
Zain Niaz
Contact email
Sponsor organisation
Ionis Pharmaceuticals, Inc.
Research summary
Angelman syndrome (AS) is a rare inherited condition that affects brain development. AS is caused by a problem with a gene called UBE3A. This gene plays an important role in brain development and function. In people with AS the UBE3A gene from the mother is missing or inactive in brain cells called neurons, which means that the brain does not develop normally.
People with AS may have little to no speech, learning difficulties, trouble walking and moving around safely, seizures, behavior challenges, and sleep problems. Currently, there are no approved treatments that can restore normal brain development in people with AS. Researchers are looking for better treatments to increase production of the UBE3A protein in neurons to improve brain function in people with AS.
ION582 is a potential medicine that is being studied for the treatment of AS. In both healthy people and those with AS, a natural process in neurons stops the UBE3A gene, inherited from the father, from working. ION582 is designed to turn on this gene in the brain so it can make more UBE3A protein. In this study, researchers want to learn about the safety of ION582 and how well it works in children and adult participants with Angelman syndrome as compared to placebo. A placebo looks like ION582 but contains no real medicine. Approximately 210 participants are planned to be enrolled in this study ranging in age from 2 to 50 years old, depending on the cohort. This study is composed of an approximately 15-months Double-blind Treatment Evaluation Period where participants will be randomised such that twice as many participants will receive ION582 compared with Placebo. This is followed by a 24-month, Long Term Extension (LTE) Treatment Period, wherein all trial participants will receive ION582, and an 8-month Post-LTE Treatment Follow-up Period.REC name
South Central - Hampshire A Research Ethics Committee
REC reference
25/SC/0117
Date of REC Opinion
16 May 2025
REC opinion
Further Information Favourable Opinion