Ultragenyx to Update on GTX-102 Angelman Program at ASF Conference

Ultragenyx Pharmaceutical Inc., a biopharmaceutical company specializing in rare and ultrarare genetic diseases, is set to present updated clinical data, regulatory achievements, and future plans for their investigational drug GTX-102. This drug is aimed at treating Angelman syndrome, a rare neurogenetic disorder. The presentation will take place on July 24, 2024, at the Angelman Syndrome Foundation (ASF) Family Conference and Research Symposium in Sandusky, Ohio.

Eric Crombez, M.D., the chief medical officer at Ultragenyx, expressed optimism about the progress seen since their interim Phase 1/2 data presentation in April at the American Academy of Neurology (AAN) Meeting. He noted that patients in the study have been acquiring new skills across multiple domains without any new serious adverse events. The company plans to begin a global randomized study by the end of the year.

The ASF presentation will cover the Phase 1/2 results previously disclosed at the AAN meeting and will provide an update on the initiation of a Phase 3 pivotal trial by the year's end. The sessions at the ASF conference will include an industry introduction by Emil D. Kakkis, M.D., Ph.D., the CEO and president of Ultragenyx, and a detailed update on the GTX-102 program by Kim Goodspeed, M.D., the medical director of global clinical development at Ultragenyx.

GTX-102 is an investigational antisense oligonucleotide administered via intrathecal injection. Its mechanism targets and inhibits the expression of UBE3A-AS. Preclinical studies have demonstrated that GTX-102 reduces UBE3A-AS levels and reactivates the paternal UBE3A allele in neurons of the central nervous system. This reactivation has been linked to improvements in some neurological symptoms of Angelman syndrome in animal models. GTX-102 has received multiple designations from the FDA, including Orphan Drug, Rare Pediatric Disease, and Fast Track, as well as Orphan Designation and PRIME designation from the EMA.

Angelman syndrome is characterized by the loss of function of the maternally inherited UBE3A gene. This condition, resulting from the silencing of the paternal UBE3A allele by UBE3A-AS, leads to limited or absent protein expression. The disorder affects approximately 60,000 individuals in accessible geographies and is typically not inherited but occurs spontaneously.

Patients with Angelman syndrome suffer from cognitive and motor impairments, balance issues, and severe seizures. Many are unable to walk or speak, and they often face challenges such as anxiety and disturbed sleep. While they have a normal lifespan, those with Angelman syndrome require continuous care and cannot live independently. The condition is often misdiagnosed as autism or cerebral palsy, and there are currently no approved therapies for its treatment. However, studies in adult animal models suggest that symptoms can potentially be improved at any age.

Ultragenyx Pharmaceutical Inc. is focused on developing treatments for serious rare and ultrarare genetic diseases. The company has built a varied portfolio of approved therapies and investigative products aimed at addressing diseases with high unmet medical need. Ultragenyx's strategy emphasizes time- and cost-efficient drug development with the goal of delivering safe and effective therapies urgently to patients.

How to obtain the latest research advancements in the field of biopharmaceuticals?

In the Synapse database, you can keep abreast of the latest research and development advances in drugs, targets, indications, organizations, etc., anywhere and anytime, on a daily or weekly basis. Click on the image below to embark on a brand new journey of drug discovery!