Angelman Syndrome Trial: Enrollment Complete for GTX-102 Pediatric Study

Ultragenyx Pharmaceutical, a company dedicated to developing treatments for rare genetic diseases, has reached a significant milestone in its clinical trials. The company has completed patient enrollment for its Phase 1/2 trial of GTX-102, an experimental therapy for pediatric patients suffering from Angelman syndrome. This syndrome is a rare genetic disorder characterized by developmental delays and motor impairments, among other symptoms. There are currently no approved treatments for this condition.

The Phase 1/2 trial is an open-label, multiple-dose study that aims to assess the safety and efficacy of GTX-102, which is administered through an intrathecal injection. The drug is designed to target and reduce the expression of the UBE3A antisense transcript, which is implicated in the syndrome's development. The trial has enrolled a total of 74 patients globally, with 53 participants in the dose-expansion cohorts.

Eric Crombez, Ultragenyx's chief medical officer, expressed optimism regarding the trial's progress and the potential for GTX-102 to improve the quality of life for those affected by Angelman syndrome. He stated that the company anticipates reporting results from at least 20 patients who have been on the therapy for a minimum of six months in the first half of 2024.

Preliminary data from the ongoing study's extension cohorts have shown improvements in various areas compared to natural history data, and there have been no additional treatment-related serious adverse events since November 2022. The long-term data suggest that patients who have restarted treatment after a pause have regained previously acquired developmental skills.

Angelman syndrome affects approximately 1 in 12,000 to 1 in 20,000 people worldwide and is caused by the loss of function of the maternally inherited UBE3A gene. Individuals with the syndrome typically experience developmental delays, balance issues, and seizures, with some unable to walk or speak. The syndrome is not inherited in the traditional sense but occurs spontaneously.

GTX-102 has been granted several designations by the FDA, including Orphan Drug Designation, Rare Pediatric Disease Designation, and Fast Track Designation, reflecting its potential to address an unmet medical need.

Ultragenyx is committed to advancing the development of GTX-102 and is working closely with the Angelman community, including patients, families, and healthcare providers, to expedite the availability of a new treatment option. The company's focus is on improving the lives of those affected by this rare and challenging condition.