Ultragenyx Receives Breakthrough Therapy Designation for GTX-102 in Angelman Syndrome

Core Insights - Ultragenyx Pharmaceutical Inc. has received Breakthrough Therapy Designation from the FDA for GTX-102 as a treatment for Angelman syndrome [1][2] - The designation highlights the urgent need for effective treatments and the promising clinical results observed with GTX-102 [2] - The Phase 3 Aspire study is currently enrolling participants, with plans for an additional Aurora study to evaluate GTX-102 in other genotypes and ages expected to start later in 2025 [3] Company Overview - Ultragenyx is a biopharmaceutical company focused on developing therapies for serious rare and ultra-rare genetic diseases [7] - The company has a diverse portfolio of approved medicines and treatment candidates aimed at addressing high unmet medical needs [7] - Ultragenyx's management team has extensive experience in the development and commercialization of rare disease therapeutics [8] Product Information - GTX-102 (apazunersen) is an investigational antisense oligonucleotide therapy designed to reactivate expression of the UBE3A gene [4] - The therapy has received multiple designations from the FDA, including Orphan Drug Designation and Fast Track Designation [4] - The Phase 1/2 study demonstrated consistent developmental gains in 74 patients aged 4-17 with a full maternal UBE3A gene deletion [2] Angelman Syndrome Insights - Angelman syndrome is a rare neurogenetic disorder affecting approximately 60,000 people in commercially accessible geographies [5] - The disorder is characterized by cognitive impairment, motor impairment, and seizures, requiring continuous care for affected individuals [6] - There are currently no approved therapies for Angelman syndrome, but animal models suggest potential for symptom improvement at any age [6]