Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by a loss of function of the maternal UBE3A gene. The disorder leads to severe developmental delays, impaired speech, movement challenges, seizures, and behavioral uniqueness. Currently, there is no therapy that targets its genetic root, but a new investigational drug may soon change that.
What Is Rugonersen?
Rugonersen is an antisense oligonucleotide (ASO) therapy designed to "unsilence" the normally inactive paternal copy of UBE3A in brain cells. It works by blocking UBE3A-ATS, a non-coding RNA that suppresses the paternal gene.
The hope is to restore UBE3A protein production, and potentially improve brain function in children with AS.
New Data from the TANGELO Trial
In a newly published Phase 1 trial, 61 children with AS received multiple doses of rugonersen via spinal injection.
Key highlights:
- Well tolerated: Most side effects were mild and short-lived
- Encouraging signs of efficacy
- Improved EEG brainwave patterns
- Developmental gains in motor, communication, and adaptive skills
“These are promising results that mark a major milestone in the development of disease‑modifying therapies for Angelman syndrome.”
Dr. Mark Shen, study investigator
What is next?
Rugonersen is not yet approved. The Phase 1 results support moving to Phase 3 clinical trials, which are expected to begin in early 2026 under new sponsor Oak Hill Bio.
If successful, rugonersen could become the first therapy to directly address the genetic cause of AS, a major leap forward for affected families and the rare disease community.
Good to see new solutions to health issues. Love how you keep us updated with new information on health care
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