Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE) announced today that the U.S. Food and Drug Administration (FDA) has approved an amendment to the Phase 1/2 study of GTX-102 in pediatric patients with Angelman syndrome. This amendment enables the company to harmonize the dose ranges of the study in the U.S. with those being used outside of the U.S.
The Phase 1/2 study is actively enrolling and dosing patients in the expansion cohorts so that the GTX-102 dose and treatment regimen can be verified for the upcoming Phase 3 program.
Ultragenyx is thrilled to announce that the protocol amendment to the clinical study of Angelman Syndrome has been officially agreed upon, allowing for comparable dose ranges across all geographies and a rapid advancement of the study.
With this exciting news, the company is working diligently to activate multiple study sites in the U.S. and plans to begin enrollment as soon as possible. The data collected thus far has been highly encouraging, demonstrating important clinical activity across multiple functional domains impacted by Angelman Syndrome with an acceptable safety profile. We look forward to expanding the study in the U.S. to learn even more.
About the Phase 1/2 study
As of May 4, 2023, our Phase 1/2, open-label, dose-escalating study has been making great strides in evaluating the safety and efficacy of GTX-102 in pediatric patients with Angelman syndrome. So far, 13 patients have been receiving GTX-102 for longer than 12 months, with the longest exposure exceeding 18 months.
We are now enrolling for expansion cohorts to verify the optimal dose range and treatment regimen for Phase 3. This is a huge step forward in helping to improve the lives of those affected by Angelman syndrome and their families.
The study, which encompasses sites in Europe, Canada, Australia, and the U.S., is actively enrolling expansion cohorts with similar dose ranges to the ex-U.S. study. A total of 40 patients will be recruited across these cohorts, with those who already started on the 2 mg dose or in the comparator group transitioning to the new protocol. Don’t miss out on this unique opportunity to be part of a global research effort!
About Angelman Syndrome
Angelman syndrome is a rare disorder caused by the loss of the maternally inherited allele of the UBE3A gene. This unique condition is due to the genomic imprinting of UBE3A in the neurons of the central nervous system, where only the maternal UBE3A allele is expressed and the paternal UBE3A is not.
Affecting an estimated 1 in 12,000 to 1 in 20,000 people globally, Angelman syndrome is typically not inherited but instead occurs spontaneously. GTX-102 is the intended target of the UBE3A antisense transcript which regulates the silencing of the paternal UBE3A allele.
Individuals with Angelman syndrome face a number of challenges, including developmental delay, balance issues, motor impairment, and debilitating seizures. While they have a normal lifespan, they require continuous care and are unable to live independently.
Unfortunately, Angelman syndrome is often misdiagnosed as autism or cerebral palsy, and there are currently no approved therapies for this disorder. However, recent research has shown that the symptoms of Angelman syndrome can be reversed in adult animal models, suggesting that improvement is possible at any age.
Anxiety and disturbed sleep can also be serious issues for those with Angelman syndrome, and many are unable to speak or even walk. But with the right support, those with Angelman syndrome can live fulfilling lives.
GTX-102 is a revolutionary investigational antisense oligonucleotide designed to target and inhibit expression of UBE3A-AS. Through its intrathecal administration, GTX-102 has been shown to reduce UBE3A-AS levels and reactivate the paternal UBE3A allele in neurons of the CNS, thus leading to potential improvements in the neurological symptoms associated with Angelman Syndrome. Appreciating the importance of this breakthrough, the FDA has honored GTX-102 with Orphan Drug Designation, Rare Pediatric Disease Designation, and Fast Track Designation.
About Ultragenyx Pharmaceutical Inc.
Ultragenyx is on a mission to make a difference in the lives of those suffering from serious rare and ultrarare genetic diseases. Through their diverse portfolio of approved therapies and product candidates, they strive to provide treatments for diseases that have no approved therapies to address their underlying cause. By delivering novel products to patients, they are committed to helping those living with these often debilitating conditions.
Ultragenyx is a pioneering biotech company, driven by a passionate and experienced management team to develop and commercialize treatments for rare diseases. With an emphasis on speed and efficiency, their ultimate goal is to bring safe and effective solutions to patients in need as quickly as possible.