Right now, there are no disease-specific treatments or cures for Angelman syndrome, a rare neurogenetic syndrome. Research centers around exploring options to reduce seizures, improve sleep, and contribute to better outcomes for those affected. One such therapeutic option being evaluated in current studies is Ionis Pharmaceuticals’ ION582. Recently, the company shared via news release that it had both completed enrollment for the Phase 1/2a HALOS clinical trial—and had positive preliminary findings.
51 people have enrolled in the study and been preliminarily treated with ION582. As explained by Ionis Pharmaceuticals, ION582 is:
an investigational antisense medicine designed to inhibit the expression of the UBE3A transcript (UBE3A-ATS).
This therapy has received Orphan Drug designation from the FDA; this status is granted to therapies designed to prevent, diagnose, or treat rare conditions affecting fewer than 200,000 people across the country.
Preliminary findings, presented at the Foundation for Angelman Syndrome Therapeutics Summit, show that:
- Intrathecal ION582 is safe and relatively well-tolerated even at different doses.
- Treated patients showed reduced slow-wave EEG delta activity and faster frequency rhythms. Though this is a promising finding, it does need to be confirmed using further studies.
- ION582 also contributed to improved functional measures.
What is Angelman Syndrome?
Caused by spontaneous gene mutations on chromosome 15, Angelman syndrome is a complex genetic disorder that predominantly affects the nervous system. Angelman syndrome may be initially misdiagnosed as autism or cerebral palsy. People with Angelman syndrome often show signs of delayed development by 6-12 months old, with seizures and other symptoms manifesting by 24 months. Symptoms and characteristics may include minimal to low speech, weak muscle tone in the trunk, tongue thrusting or hand-flapping, ataxia, microcephaly, feeding difficulties, and sleep disorders.
People with Angelman syndrome often have happy, excitable personalities, and often smile and laugh. Excitability may reduce with age.
