Many treatments for Angelman syndrome that are in development aim to turn on the silent paternal UBE3A gene to increase UBE3A in the brain. We don’t yet know if this is safe for individuals who already have too much UBE3A activity.
Some people with Angelman syndrome have missense mutations. These are small changes in the UBE3A gene where just one part of the protein is different. These tiny changes can have big effects.
Right now, it’s hard for doctors to tell which type a child has, and that makes treatment decisions more complicated.
This study will test antisense oligonucleotide (ASO) treatment in mice with a gain-of-function mutation to see how it affects their behavior, health, and safety.
This research will move us toward treatments that are effective, safe, and tailored to every person with Angelman syndrome.