Angelman syndrome, which affects 1 in 15,000 people ... so you’re left with a young adult who should be an integrated part of ...

Many cases of Angelman syndrome can go undiagnosed because the disorder shares symptoms and characteristics with other conditions. Men and women are equally likely to experience the disorder.

Angelman syndrome is caused by a large deletion of the region of the maternal chromosome that contains UBE3A, or by a DNA sequence change (mutation) in the UBE3A gene inherited from the mother.

We each get two copies of every gene - one copy from each of our parents. But what happens when one of these genes has been "turned off", or imprinted, and the remaining gene is defective?

The global Phase 3 Aspire study will enroll approximately 120 children ages 4 to 17 with Angelman syndrome with a genetically confirmed diagnosis of full maternal UBE3A gene deletion. Participants ...

The FDA approval was based on Phase 3 Balance trial data in adult patients ... following alignment with the FDA on ION582 for Angelman syndrome (AS). The trial is expected to start in the first ...

(NASDAQ: RARE), today announced that the first patient has been dosed in the pivotal Phase 3 Aspire study (NCT06617429) evaluating the efficacy and safety of GTX-102, its investigational antisense ...