The BEACON study is a Phase 3 clinical research study sponsored by Oak Hill Bio Ltd and is looking to help those who have been diagnosed with Angelman syndrome. The BEACON study will evaluate rugonersen as a potential treatment for individuals diagnosed with Angelman syndrome with either a UBE3A deletion or mutation between the ages of 1 to 50 years old.
1 to 50 years old
Angelman syndrome
Yes
3
About 3 years
Parents and caregivers may be able to enroll their loved ones if they meet the following requirements:
Aged 1 to 50 years old
Confirmed diagnosis of Angelman syndrome with a deletion or mutation of the UBE3A gene
On a stable dose if taking any permitted medications such as anti-seizure treatments
No previous treatment with an oligonucleotide (including small interfering RNA [siRNA], ASOs) or advanced therapy
Other study criteria will apply.
Speak to a study doctor to learn moreParticipation in the BEACON Study lasts about 3 years in total. The study consists of two major parts including Part 1 which is the initial blinded treatment phase where participants receive either rugonersen or a sham procedure and Part 2 which is the open-label extension phase where all participants will receive rugonersen. During the blinded phase, neither the study doctor nor the participant will know whether a study drug or sham procedure was conducted.
Parents, caregivers, and study participants can expect the following during the BEACON study:
1
1
A study doctor will guide you through the Informed Consent Form (ICF) which contains information about the study including its goals, duration, benefits, risks, tests and procedures. Always ask any question you may have about the study!
2
2
Receive study health assessments to confirm if your child is eligible to qualify for the study.
3
3
Receive a total of 5 doses of rugonersen administered through lumbar spinal injection or undergo 5 sham procedures. Patients may receive anesthesia or sedation during the rugonersen administration or sham procedure at the study doctor’s discretion.
4
4
Participants will be evaluated by the study team for change in Bayley-4 scores as well as receiving other health assessments.
5
5
During this two-year period, participants will receive doses of rugonersen every 12 weeks. At this point all participants will be receiving the study drug.
Participation in a clinical study is voluntary. As a parent or caregiver, you may withdraw consent and remove the participant from the study at any time, for any reason.
Reach out to a study doctor near you to see if you may qualify!
Contact a study doctorRugonersen is an investigational medicine being developed for people with Angelman syndrome. Angelman syndrome happens when the UBE3A gene in the brain does not work properly. Rugonersen is an antisense oligonucleotide (ASO), a small piece of synthetic genetic material that can change how genes are switched on or off. It works by “unsilencing” the father’s copy of the UBE3A gene, which is normally turned off in brain cells. By turning this copy back on, rugonersen may increase the amount of UBE3A protein in the brain and help improve symptoms related to learning, movement, and communication.
At this time, there are no approved medications that address Angelman syndrome as a whole. The BEACON Study medical team is working to advance Angelman syndrome research and expand potential treatment options to help those diagnosed begin to develop in a more typical way.
Once enrolled, participants will be randomly selected to receive either the study drug rugonersen, or undergo a sham procedure. Participants will have a 50 percent chance of receiving either the study drug or the sham during the first year (Part 1) of the study. During the following two years (Part 2), the open-label extension portion of the study, all participants will receive the investigative study drug.
The sham procedure is important for clinical trials to truly understand the effectiveness of the potential treatment as well as eliminate bias during evaluation. In this case, the study doctor will conduct each appointment as if the participant were to receive the study drug, including preparation and potential sedation. However, at that stage, the injection of the study drug will not occur. A sham is often conducted to prevent unnecessary exposure to certain processes such as a lumbar injection.
Investigational means the study medication is not yet approved by regulatory authorities like the US Food and Drug Administration (FDA) or the European Medicines Agency (EMA). An investigational drug can only be used in clinical research studies like the BEACON Study.
Angelman syndrome is a rare neurogenetic condition that primarily affects the brain, leading to significant developmental challenges. It is typically diagnosed in early childhood and is characterized by impairments in walking, talking, and learning. Common features of Angelman syndrome may include:
Seizures
Minimal or absent speech
Delays in development
Difficulties with balance and movement coordination (ataxia)
Sleep disturbances
Some individuals may also experience feeding difficulties or hyperactivity.
Angelman syndrome happens when the UBE3A gene from the mother on chromosome 15 is missing or not working properly. Managing Angelman syndrome requires ongoing, multidisciplinary support tailored to fit each individual’s needs.
Support networks, educational resources, and clinical trials may provide valuable opportunities for families to stay informed, connected, and hopeful as research continues to progress.
If you still have questions, the below trusted resources can provide a guiding light as you navigate caring for someone with Angelman syndrome.
Here are some common questions and answers about study participation.
Clinical research studies, or trials, help researchers and doctors explore whether a medical strategy, device, or medication is safe and effective for people. Before any medication can be approved and made available to the public, it must go through several phases of clinical research.
Before enrolling your child or loved one with Angelman syndrome in a clinical trial, you must sign an Informed Consent Form (ICF) for them. The ICF contains information about the study, including study goals, how long the study will last, benefits and risks, and the tests and procedures you will receive.
Study participation involves visiting a clinic regularly, taking or receiving an investigational medicine, and having assessments to monitor the participant’s health. You can still see their regular doctor, but you should let them know of the enrollment in a study.
Participation in clinical research studies is your choice, and you may withdraw your child or loved one at any time.
If you have additional questions about participating in a clinical trial, contact a study clinic near you.
Use the filters, map, and listing to find the study clinic closest to you.
Contact a study clinic to learn more about the BEACON Study.