Several companies are working on new investigational treatments for Angelman syndrome, a rare genetic disorder that affects the nervous system and causes developmental delays, intellectual disability, seizures and speech impairment. Ionis and Ultragenyx are competing to bring investigational antisense oligonucleotide treatments to the market, while Neuren is betting on a synthetic peptide that can be delivered orally. It’s a tight race in a disease space with a high unmet need.Affecting 500,000 to 1 million patients worldwide, Angelman syndrome has no approved disease-modifying treatments. Although antiseizure medication is available, these drugs do not address the root cause, a genetic mutation in the UBE3A gene on chromosome 15. In Angelman syndrome, only the copy of the UBE3A gene inherited from the mother is functional, while the father’s allele is mutated.Both Ionis and Ultragenyx are currently in Phase III trials with their oligonucleotides, called ION582 and GTX-102, respectively. Meanwhile, Neuren is conducting a mid-stage trial on NNZ-2591, a twice-daily oral solution consisting of a synthetic peptide that modulates acetylcholine neurotransmission.Ionis’ ION582 is an investigational intrathecal injection that targets a long noncoding RNA to increase expression of the UBE3A protein in neurons

Recent Developments In January 2024, Ultragenyx Pharmaceutical Inc. announced that the National Institute for Health and Care Excellence (NICE) has released a final draft guidance recommending Evkeeza (evinacumab) for use within NHS England.