Rush for GTX-102 treatment experiment due to intense demand

In a significant step forward for the Angelman syndrome community, the Aspire study, sponsored by Ultragenyx Pharmaceutical, has successfully completed enrollment. The trial, which enrolled approximately 129 participants aged 4-17, is a Phase 3 clinical study for an experimental therapy identified as GTX-102 (apazunersen).

The main goal of the Aspire study is to assess the impact of GTX-102 on the Bayley-4 Cognitive Raw Score, a crucial measure of cognitive development. Additionally, the study evaluates tests of motor function and behavior, along with safety outcomes.

Angelman syndrome, a genetic disorder caused by mutations in the UBE3A gene, has left many patients without a functional UBE3A gene in their nerve cells. In the Aspire study, participants are randomly assigned to receive GTX-102 injections or sham injections for about a year. GTX-102 is administered by intrathecal injection, which is into the spinal canal.

The accelerated enrollment of the Aspire study is attributed to the urgent need and strong desire for an effective treatment for Angelman syndrome. Support from the Angelman syndrome community played a significant role in the completion of enrollment.

Eric Crombez, MD, the chief medical officer at Ultragenyx Pharmaceutical, expressed his optimism about the continued development of GTX-102. He stated that the continued developmental gains observed in the Phase 1/2 study provide a strong foundation for advancing the program with the potential to address the underlying genetic cause of Angelman syndrome and enhance the quality of life for children living with Angelman syndrome.

Following the successful completion of the Aspire study, Ultragenyx Pharmaceutical is planning to launch a separate study called Aurora to test GTX-102 in other ages and mutation types. The expected results of the Aspire study are due in late 2026. Aurora is expected to launch later this year.

The Aspire study builds on data from the KIK-AS study, a Phase 1/2 study whose findings indicated GTX-102 was generally well-tolerated and led to improvements in cognition. GTX-102 is an antisense oligonucleotide designed to inhibit the mechanism that silences the paternal UBE3A gene copy, intending to turn on the healthy version from the father.

The developer of GTX-102 is Ultragenyx, and according to Ultragenyx's statement, a further study planned to start later in the year 2021 is not specified in the provided search results. The results of these studies could potentially bring hope and a significant improvement in the lives of those affected by Angelman syndrome.