Angelman SyndromePhase 3NCT07605429
BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome.
A Phase 3 study testing rugonersen in people with Angelman Syndrome, run by OHB Pediatrics Ltd. at 10 sites in 3 countries.
Trial summary
Purpose of the study is to evaluate the efficacy and safety of intrathecally administered rugonersen in pediatric and adult participants with Angelman syndrome. Read more about this study
- Who is it for?
- Ages 1 year to 50 years
- Conditions the study is for
- Angelman Syndrome
- What is being tested?
- rugonersen
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 165 participants
- Where
- 10 sitesin 3 countries
- Study dates
- 23 Jun 2026to Mar 2031
- Phase
- Phase 3
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Male or female and ≥ 1 year to ≤ 50 years of age at signing of the informed consent form.
- Independent of the age of the participant, the participant has a parent, caregiver or legal representative (herein after referred to as caregiver) who is reliable and competent in the Investigator's judgement. The caregiver is:
- Able to consent for the participant according to ICH and local regulations,
- At least 18 years of age,
- Willing and able to accompany the participant to clinic visits and be available to the investigational site by telephone, email, or other electronic form as needed,
- Is, and will likely remain, sufficiently knowledgeable of participant's condition throughout the study to be able to respond to queries, and is willing and able to complete caregiver assessments and inform the site personnel about the participant's condition as requested.
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- Clinical diagnosis of Angelman syndrome.
- Pre-existing medical records confirm the clinical diagnosis of AS and the molecular diagnosis with genotypic classification of either:
- Mutation in the UBE3A gene, and the pathogenic or likely pathogenic variant identified,
- Deletion on the maternally inherited chromosome 15q11-q13 that encompasses the UBE3A gene.
- Able to comply with all study requirements.
- Able to tolerate blood draws.
- Able to undergo LP and IT injection, under sedation or anesthesia without intubation as deemed appropriate.
- Has stable medical status for at least 4 weeks prior to screening and at the time of enrolment.
- Bodyweight > 7.5 kg
- Legally authorized representative/caregiver(s) agree(s) not to share any of the participant's personal medical data or information related to the study by any means, including, e.g., a website or a post on a social media site (e.g., Facebook, Instagram, Twitter, YouTube, TikTok, etc.) from the time of enrollment until they are notified that the study is completed.
- Stable permitted medications (including cannabidiol [CBD]) for epilepsy for 12 weeks prior to screening and at the time of enrolment, with the exception of age/weight-based or blood level (toxicity) dose adjustments.
- Stable concurrent psychotropic medications for 4 weeks prior to screening and at time of enrolment.
- Complies with the requirements regarding contraception and is confirmed by caregiver consent.
Who cannot join
- Molecular diagnosis of AS with genotypic classification of:
- Uniparental paternal disomy (UPD) of 15q11-q13,
- Imprinting center defect (ICD) within 15q11-q13,
- A partial molecular diagnosis of AS, that cannot exclude UPD or ICD despite appropriate genetic testing.
- Clinically significant vital signs or laboratory abnormalities during screening, including:
- o Abnormal coagulation profile demonstrated by platelet count at or below lower limit of normal (140 × 109/L), or by abnormal international normalized ratio (INR) and/or prothrombin time (PT), or activated partial thromboplastin time (aPTT).
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- Presence of clinically relevant electrocardiogram (ECG) abnormalities prior to dosing such as QT interval corrected for heart rate using Fredericia's formula (QTcF) > 460 ms, personal or family history of congenital long QT syndrome indicating safety risk in the Investigator's opinion. First-degree atrioventricular block or isolated right bundle branch block is allowed.
- Clinically relevant disease or condition, including hematological, hepatic, cardiac or renal disease or abnormality, that would, in the judgement of the Investigator, pose an unacceptable risk to the participant or interfere with the conduct of the study
- Any concomitant condition that might interfere with the clinical evaluation of AS and that is not related to AS.
- Known history of human immunodeficiency virus (HIV), hepatitis B, C, or E virus.
- Any condition that increases the risk of meningitis.
- History of bleeding diathesis or coagulopathy.
- Medical history of brain or spinal disease that would interfere with the LP process, CSF circulation or safety assessment, including:
- Tumors or abnormalities detected by magnetic resonance imaging (MRI) or computed tomography (CT),
- Subarachnoid hemorrhage,
- Clinical suggestion of raised intracranial pressure confirmed by MRI or ophthalmic examination,
- Spinal stenosis or curvature (considered sufficient to prohibit LP),
- Chiari malformation,
- Hydrocephalus,
- Syringomyelia,
- Tethered spinal cord syndrome and connective tissue disorders such as Ehlers-Danos syndrome and Marfan syndrome,
- Radiculopathy or radiculitis.
- Ventriculoperitoneal (VP) shunt for the drainage of CSF or an implanted CNS catheter.
- Medical history of brain or spinal injury, of traumatic, hemorrhagic, or any other origin, that may result in symptoms interfering with AS.
- History of clinically significant post LP headache of moderate or severe intensity and/or blood patch that would, in the judgement of the Investigator, pose an unacceptable risk to the participant or interfere with the conduct of the study.
- Malignancy within 5 years of screening.
- Hospitalization for any major medical or surgical procedure involving general anesthesia planned during the study, or within 4 weeks prior to screening, that - in the opinion of the Investigator - may pose a risk to the participant.
- Prohibited use of antiplatelet or anticoagulant therapy for 2 weeks prior to screening and at the time of enrolment.
- Have any other conditions which would make the participant unsuitable for inclusion or could interfere with the participant participating in or completing the study, including any contraindication to administration of IT therapy.
- Extremely or very preterm birth complications which, in the opinion of the Investigator, may interfere with study outcomes.
- Birth complications, confirmed or suspected asphyxia before, during, or after birth.
- Ascertained or presumptive hypersensitivity to the investigational medicinal product (IMP) or its excipients.
- Participated in a clinical trial and received an IMP within 90 days or 5 half-lives (whichever is longer) or tested an investigational medical device within 90 days prior to dosing or if the device is still active.
- Concurrent or planned concurrent participation in any clinical study (including observational, non-drug and non-interventional studies) without a signed data sharing agreement in place between the other clinical study and the Sponsor.
- Previous participation in cellular therapy, gene therapy, gene editing, or any other gene expression modulating clinical trial, such as an ASO treatment.
Trial locations and contacts
10 sites in 3 countries. Contact the study team or a site near you to ask about taking part.
10 sites in 3 countries
United States7 sites, 7 recruiting
- Recruiting
Children's Hospital Colorado
Aurora, Colorado, 80045
Diana Walleigh
- Recruiting
University of North Carolina at Chapel Hill School of Medicine
Chapel Hill, North Carolina, 27510
Elizabeth Jalazo
- Recruiting
Rush University
Chicago, Illinois, 60612
Elizabeth Berry-Kravis
- Recruiting
Cedars-Sinai Medical Center
Los Angeles, California, 90048
Cesar Ochoa-Lubinoff
- Recruiting
Nicklaus Children's Hospital
Miami, Florida, 33155
Paula Schleifer
- Recruiting
Vanderbilt University Medical Center - Monroe Carell Jr. Children's Hospital
Nashville, Tennessee, 37232
Robert Carson
- Recruiting
Rady Children's Hospital
San Diego, California, 92123
Lynne Bird
Taiwan2 sites, 2 recruiting
- Recruiting
China Medical University Hospital
Taichung, 404
I-Ching Chou
- Recruiting
National Taiwan University Hospital
Taipei, Taipei City, 100225
Wang-Tso Lee
South Korea1 site, 1 recruiting
- Recruiting
Seoul National University Hospital
Seoul, Jongno District
Jong-Hee Chae
About this study
Official title: A Randomized, Multi-center, Double-blind, Sham-controlled, Phase III Clinical Study to Evaluate the Efficacy and Safety of Intrathecally Administered Rugonersen in Pediatric and Adult Participants With Angelman Syndrome
Purpose of the study is to evaluate the efficacy and safety of intrathecally administered rugonersen in pediatric and adult participants with Angelman syndrome.
Read the detailed description
This study is a Phase III, randomized, double-blind, sham-controlled, multi center study designed to evaluate the efficacy and safety of intrathecally (IT) administered rugonersen compared with sham in up to 165 participants with AS (Part 1), followed by an open-label extension (OLE) of approximately 116 weeks (2 years) for long-term evaluation of the efficacy and safety of IT administered rugonersen in participants with AS (Part 2).
- Conditions
- Angelman Syndrome
- Being tested
- rugonersen, Sham procedure
- Medical subject headings
- Angelman Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
rugonersenDrug
Study Drug
Sham procedureProcedure or surgery
Sham Procedure
| Study group | Role | What they receive |
|---|---|---|
| rugonersen | Experimental | Study Drug Receives: Drug: rugonersen |
| Sham | Sham comparator | Sham Procedure Receives: Procedure: Sham procedure |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change from baseline in the Bayley-4 cognition and/or expressive communication raw scores without caregiver input at Week 56.
The Bayley-4 is a performance-based assessment of developmental functioning of five core battery scales: cognitive, language (two subtests: expressive and receptive communication), motor (two subtests: gross and fine motor), social-emotional, and adaptive behavior. Change from baseline in the raw scores of the cognition and/or expressive communication scales of the Bayley-4, without caregiver input, higher change reflects a better outcome of the core scales.
Measured: Baseline to week 56
Secondary outcomes (3)
Symptoms of Angelman Syndrome - Clinician Global Impression of Change (SAS-CGI-C) overall at Week 56.
The SAS-CGI-C is a Symptoms of Angelman Syndrome - Clinician Global Impression of Change that has been developed for Angelman Syndrome. The SAS-CGI-C is a nine domain, clinician-rated measure, which assesses the clinician's impression of the severity of a participant's condition ranging from "very much improved" (1) to "very much worse" (7).
Measured: Week 56
Change from baseline in electroencephalogram (EEG) delta-band power at Week 56.
Change from baseline in electroencephalogram (EEG) delta-band power at Week 56.
Measured: Week 56
Incidence of serious adverse events (SAEs).
Incidence of serious adverse events (SAEs).
Measured: Week 60
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 May 2026
- Study start23 Jun 2026
- Primary completionMar 2029 (estimated)
- Study completionMar 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Angelman SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 3
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 165 participants (estimated)
Sponsor and investigators
- Lead sponsor
- OHB Pediatrics Ltd.
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Medpace, Inc.
- Responsible party
- Sponsor
- Investigators
- Brenda Vincenzi, MD, Study director, OHB Pediatrics Ltd.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07605429
- Sponsor's protocol ID
- OHB-724-301
- Status last verified
- Nov 2026
- First submitted
- 15 May 2026
- Last updated
- 6 Nov 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
- Expanded access
- Available
Study at a glance
From the registry record, last updated by the sponsor on 6 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Randomized, Multi-center, Double-blind, Sham-controlled, Phase III Clinical Study to Evaluate the Efficacy and Safety of Intrathecally Administered Rugonersen in Pediatric and Adult Participants With Angelman Syndrome
- ClinicalTrials.gov ID
- NCT07605429
- Acronym / sponsor ID
- OHB-724-301
- Conditions
- Angelman Syndrome
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 165 participants (estimated)
- Lead sponsor
- OHB Pediatrics Ltd.Industry (pharma, biotech, devices)
- Collaborators
- Medpace, Inc.
- Study start
- 23 Jun 2026 (actual)
- Primary completion
- Mar 2029 (estimated)
- Study completion
- Mar 2031 (estimated)
- First posted
- 26 May 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Purpose of the study is to evaluate the efficacy and safety of intrathecally administered rugonersen in pediatric and adult participants with Angelman syndrome.
Detailed description
This study is a Phase III, randomized, double-blind, sham-controlled, multi center study designed to evaluate the efficacy and safety of intrathecally (IT) administered rugonersen compared with sham in up to 165 participants with AS (Part 1), followed by an open-label extension (OLE) of approximately 116 weeks (2 years) for long-term evaluation of the efficacy and safety of IT administered rugonersen in participants with AS (Part 2).
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| rugonersen | Experimental | Drug: rugonersenStudy Drug |
| Sham | Sham comparator | Procedure: Sham procedureSham Procedure |
Who may qualify
- Ages
- 1 year to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (19 listed)
- Male or female and ≥ 1 year to ≤ 50 years of age at signing of the informed consent form.
- Independent of the age of the participant, the participant has a parent, caregiver or legal representative (herein after referred to as caregiver) who is reliable and competent in the Investigator's judgement. The caregiver is:
- Clinical diagnosis of Angelman syndrome.
- Pre-existing medical records confirm the clinical diagnosis of AS and the molecular diagnosis with genotypic classification of either:
- Able to comply with all study requirements.
Key exclusion criteria (35 listed)
- Molecular diagnosis of AS with genotypic classification of:
- Clinically significant vital signs or laboratory abnormalities during screening, including:
- o Abnormal coagulation profile demonstrated by platelet count at or below lower limit of normal (140 × 109/L), or by abnormal international normalized ratio (INR) and/or prothrombin time (PT), or activated partial thromboplastin time (aPTT).
- Presence of clinically relevant electrocardiogram (ECG) abnormalities prior to dosing such as QT interval corrected for heart rate using Fredericia's formula (QTcF) > 460 ms, personal or family history of congenital long QT syndrome indicating safety risk in the Investigator's opinion. First-degree atrioventricular block or isolated right bundle branch block is allowed.
- Clinically relevant disease or condition, including hematological, hepatic, cardiac or renal disease or abnormality, that would, in the judgement of the Investigator, pose an unacceptable risk to the participant or interfere with the conduct of the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| rugonersenStudy Drug | Drug | rugonersen |
| Sham procedureSham Procedure | Procedure or surgery | Sham |
Primary outcome
Change from baseline in the Bayley-4 cognition and/or expressive communication raw scores without caregiver input at Week 56.
Time frame: Baseline to week 56
The Bayley-4 is a performance-based assessment of developmental functioning of five core battery scales: cognitive, language (two subtests: expressive and receptive communication), motor (two subtests: gross and fine motor), social-emotional, and adaptive behavior. Change from baseline in the raw scores of the cognition and/or expressive communication scales of the Bayley-4, without caregiver input, higher change reflects a better outcome of the core scales.
3 secondary outcomes
Symptoms of Angelman Syndrome - Clinician Global Impression of Change (SAS-CGI-C) overall at Week 56.
Time frame: Week 56
Change from baseline in electroencephalogram (EEG) delta-band power at Week 56.
Time frame: Week 56
Incidence of serious adverse events (SAEs).
Time frame: Week 60
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Nov 2026.
- Individual participant dataSharing planned: No
Related trials for Angelman Syndrome
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A Natural History Study of Angelman Syndrome
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REVEAL: A Phase 3 Study of Obudanersen (ION582) in Angelman Syndrome
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Web Intervention for Parents of Youth With Genetic Syndromes (WINGS)
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Brenda Vincenzi, MD study director
OHB Pediatrics Ltd.
10 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing rugonersen in people with Angelman Syndrome, run by OHB Pediatrics Ltd. at 10 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 19 inclusion and 35 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 10 sites in United States, Taiwan, South Korea. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Brenda Vincenzi, MD (+1 857 855 4107, beaconstudy@mytomorrows.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change from baseline in the Bayley-4 cognition and/or expressive communication raw scores without caregiver input at Week 56. (time frame: Baseline to week 56). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Nov 2026.