Phase 3 trial begins testing potential Angelman syndrome treatment
BEACON will test rugonersen in up to 165 people ages 1 to 50
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The Phase 3 BEACON clinical trial, which is testing the experimental therapy rugonersen in people with Angelman syndrome, has begun dosing participants.
Oak Hill Bio, the company developing rugonersen and sponsoring the trial, announced that the first participant had been dosed in late July. The trial is currently recruiting participants at sites in California and North Carolina.
“The dosing of the first participant in the BEACON (NCT07605429) trial marks an important milestone for the rugonersen development program and for the Angelman syndrome community,” Brenda Vincenzi, MD, Oak Hill’s chief medical officer, said in a company press release.
BEACON will assess cognition and expressive communication
The BEACON study aims to enroll up to 165 people with Angelman syndrome ages 1 to 50. Participants will be randomly assigned to receive either rugonersen by injection into the spinal canal once every 12 weeks or a sham procedure. The study’s main goal is to determine whether the therapy can improve cognition and/or expressive communication, as measured by a standardized developmental assessment called the Bayley Scale of Infant and Toddler Development, Fourth Edition (BSID-4).
After the initial sham-controlled study, which lasts about a year, participants who complete 56 weeks can enter an open-label extension in which those who enroll will receive rugonersen for an additional two years. Oak Hill said it expects to report top-line findings in early 2029.
“It is a privilege to once again work closely with individuals living with Angelman syndrome, their families, clinicians, and patient advocacy organizations as we advance this pivotal Phase 3 trial. … We are hopeful that this trial will bring us one step closer to delivering a meaningful treatment option for people living with Angelman syndrome, who continue to face significant unmet medical needs,” Vincenzi said.
Angelman syndrome is a genetic disorder caused by the absence or malfunction of the maternal copy of the UBE3A gene. People typically inherit two copies of UBE3A, one from each biological parent, but in certain brain cells, only the maternal copy is normally active, while the paternal copy is turned off. When the maternal copy is missing or dysfunctional, these cells can lack normal UBE3A function. Rugonersen aims to treat the disease by reactivating the inactive paternal copy, thereby restoring UBE3A expression in these brain cells and addressing the root cause of Angelman.
Earlier trial showed encouraging safety and activity signals
Rugonersen was previously developed by Roche, which ran a Phase 1 clinical trial called TANGELO (NCT04428281) to test the therapy in children with Angelman syndrome. Results showed the therapy was generally well tolerated and showed some promising signs of activity, including partial normalization of abnormal electrical activity in the brain and improvements on several exploratory measures compared with expectations based on the natural history of Angelman syndrome. However, the efficacy results fell short of the criteria Roche had set to justify continued investment, and in 2023, the company announced it would stop developing the therapy.
“Building on encouraging preclinical findings and the Phase 1 trial, which demonstrated promising safety, target engagement, and signals of clinical activity, BEACON is designed to further evaluate the efficacy and safety of rugonersen,” Vincenzi said.
Oak Hill, which specializes in acquiring and developing rare disease treatments that have been deprioritized by large pharmaceutical companies, acquired the rights to rugonersen from Roche in early 2025. The company has secured more than $30 million in financing to help fund Phase 3 testing of the therapy. Last month, Oak Hill announced a proposed business combination with Research Alliance Corporation III that, if completed, is expected to provide Oak Hill with about $175 million in gross proceeds.
“The resources provided by this amazing group of investors will enable us to continue to aggressively develop rugonersen. We have dosed the first patient in the Phase 3 BEACON trial and look forward to evaluating the potential of rugonersen to meaningfully impact the lives of patients living with Angelman syndrome and their families,” Josh Distler, Oak Hill’s CEO, said in a press release announcing the deal.
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