Exciting News: Positive Interim Phase 1/2 Results for Investigational Treatment GTX-102 in Angelman Syndrome Patients

We are thrilled to share that Ultragenyx has released promising interim findings from their Phase 1/2 clinical trial involving patients living with the deletion genotype of Angelman syndrome. The ongoing study has shown encouraging results following treatment with the investigational therapy, GTX-102.

From company press release:

“The totality of these interim data demonstrates that treatment with GTX-102 resulted in rapid, multi-domain improvements that continued during maintenance dosing. These broad developmental gains are having a meaningful impact on patients and their families. For example, we’re hearing about children who are now able to routinely communicate their needs to family members, which greatly improves their ability to interact with their caregivers.

We have also heard from families about their children who are accumulating additional developmental gains such as running, swimming and independent eating,” said Eric Crombez, M.D., chief medical officer at Ultragenyx. “Our next step is an end of Phase 2 meeting with the FDA and interactions with other health authorities to enable timely initiation of a Phase 3 pivotal study.”

There were no unexpected serious adverse events. Three patients had serious adverse events (mild to moderate) of lower extremity weakness assessed as related to study treatment; one in Cohort 7, two in Cohorts A & B; none reported in Cohorts C–E to date. All resolved rapidly without sequelae and remain in the study without ongoing safety concerns.

Ultragenyx reports that they expect initiation of the Phase 3 study late in 2024. They will meet with the FDA and other regulatory agencies to finalize the Phase 3 study, but current plans are to enroll 100-120 patients ages 4-17 years of age in the USA, Europe, Latin America, and Japan. Ultragenyx explained that half of patients participating in the study will receive GTX-102 while the other half will receive placebo. At the completion of the study, all participants would receive GTX-102 in an open-label extension phase.

We are thrilled to be witnessing such exciting progress within our community, and we extend our heartfelt appreciation to companies like Ultragenyx for their unwavering commitment to advancing potential treatment options for Angelman Syndrome.

Please stay tuned for further updates as we continue this journey together towards improving outcomes and enhancing the quality of life for individuals with Angelman Syndrome.

See the full press release from Ultragenyx

Ultragenyx has issued a community letter following the announcement of positive Interim Phase 1/2 data in patients with Angelman syndrome after treatment with GTX-102. The letter echo’s the company press release from earlier this week stating the data “demonstrate encouraging trends across several aspects of development affected by Angelman syndrome, reinforcing confidence in the clinical development program to move forward into our next phase.”

Read the Ultragenyx community letter