NOVATO, Calif. - Ultragenyx Pharmaceutical Inc. (NASDAQ: NASDAQ:RARE) has announced a successful end-of-Phase 2 meeting with the U.S. Food and Drug Administration (FDA), paving the way for a Phase 3 study of GTX-102, a treatment for Angelman syndrome. The Phase 3 trial, expected to commence by year-end, will assess the efficacy of GTX-102, with primary focus on cognitive improvement in patients with a full UBE3A gene deletion.
The FDA has agreed on the primary and secondary endpoints for the upcoming global, randomized, double-blind, sham-controlled trial. Approximately 120 patients will be enrolled for a 48-week efficacy analysis. The primary measure will be cognition, evaluated by the Bayley-4 cognitive raw score. Following the double-blind period, control patients will have the opportunity to begin treatment.
Interim data from the Phase 1/2 study indicated that patients treated with GTX-102 showed significant cognitive improvements compared to minimal changes seen in natural history data. The upcoming Phase 3 study will also include the Multi-domain Responder Index (MDRI) as a key secondary endpoint, assessing cognition, communication, behavior, motor function, and sleep.
In addition to the primary study, Ultragenyx is planning an open-label study to explore GTX-102's safety and efficacy in patients with other Angelman syndrome genotypes and age groups.
Ultragenyx has also engaged with European and Japanese regulatory agencies, receiving approval for the Phase 3 study design from the European Medicines Agency and anticipating discussions with Japan's Pharmaceuticals and Medical Devices Agency.
GTX-102 is an antisense oligonucleotide designed to target and inhibit UBE3A-AS expression, potentially reactivating expression of the paternal UBE3A allele in the central nervous system. The treatment has received Orphan Drug, Rare Pediatric Disease, and Fast Track Designations from the FDA, as well as Orphan Designation and PRIME designation from the EMA.
Angelman syndrome is a rare, neurogenetic disorder characterized by severe cognitive and motor impairment, seizures, and sleep disturbances, affecting an estimated 60,000 individuals in commercially accessible regions.
This announcement is based on a press release statement from Ultragenyx Pharmaceutical Inc. The company is focused on the development and commercialization of therapies for rare and ultra-rare genetic diseases. For more information on Ultragenyx's Angelman syndrome program, U.S. residents can visit www.ultraclinicaltrials.com.
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