Ultragenyx breakthrough therapy status for Angelman syndrome drug

 Ultragenyx Pharmaceutical's experimental treatment for Angelman syndrome received Breakthrough Therapy Designation from the U.S. Food and Drug Administration.

The FDA granted the special status to GTX-102 (apazunersen) based on preliminary clinical evidence from a Phase 1/2 study involving 74 patients aged 4-17 years with a full maternal UBE3A gene deletion. According to the company, participants showed consistent developmental gains with rapid, sustained improvements across multiple symptom domains when treated for up to 3 years.

"FDA Breakthrough Therapy Designation underscores both the urgent need for an effective treatment for patients and families affected by Angelman syndrome and the clinically meaningful results demonstrated to date with GTX-102," said Eric Crombez, M.D., chief medical officer at Ultragenyx.

The Breakthrough Therapy Designation is designed to expedite the development and review process for drugs that treat serious conditions and show preliminary evidence of substantial improvement over existing therapies.

Ultragenyx has already begun enrollment in its global Phase 3 Aspire study, which started in December 2024. The trial is expected to enroll approximately 120 children ages four to 17 with Angelman syndrome who have a genetically confirmed diagnosis of full maternal UBE3A gene deletion.

The company also plans to initiate the Aurora study in the second half of 2025, which will evaluate GTX-102 across other Angelman syndrome genotypes and age groups.

https://www.investing.com/news/stock-market-news/ultragenyx-stock-rises-after-fda-grants-breakthrough-therapy-status-for-angelman-syndrome-drug-93CH-4114580