VIDEO: ‘Clinically significant’ cognitive improvement found with Angelman syndrome drug

DENVER — Treatment with a novel therapeutic led to clinically significant improvement in cognition for young persons with Angelman syndrome, Kemi Olugemo, MD, FAAN, said in this Healio video at the American Academy of Neurology annual meeting.

An investigational, intrathecally administered antisense oligonucleotide, GTX-102-001 is being investigated in an ongoing phase 1/2 open-label clinical trial with dose-escalation and dose-expansion cohorts in those with genetic confirmation of full maternal UBE3A gene deletion.

Participants aged 4 to 17 years were to receive three to four monthly loading GTX-102 injections followed by maintenance dosing every 3 months. As of data cutoff, 15 individuals were enrolled in cohorts 4 to 7.

“Overall for both cohorts, we saw a rapid improvement in multi domains which are impacted in Angelman syndrome compared to natural history,” said Olugemo, vice president of global clinical development at Ultragenyx Pharmaceutical.

Researchers found that treatment with GTX-102 was linked to an exponential, clinically significant improvement in cognition. Olugemo added that these results as well as the drug’s “encouraging” safety profile would likely lead to a future phase 3 study.