Obudanersen for Angelman Syndrome in UPD/ID patients

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is a Phase 3, open-label, single-arm study enrolling two age cohorts (2–<18 and 18–≤50) across multiple centers. Participants will undergo a screening period, about 60 weeks of treatment evaluation, a long-term extension, and an 8-month post-treatment follow-up. The study uses a central genetic confirmation and requires caregiver consent, with stable medical status and anesthesia suitability as part of eligibility. Obudanersen is the sole intervention evaluated in this trial.

Why it matters

Who can join: the full rules

Key Inclusion Criteria:

1. Clinical diagnosis of AS with molecular result indicating either paternal UPD of 15q11.2-q13 or ID of the maternal 15q11.2-q13 region, provided by the Investigator and confirmed by either a qualified central vendor or a qualified local geneticist at the site.
2. The participant's caregiver(s)/legally-authorized representative (LAR) must have given written informed consent and any authorizations required by local law and be able and willing to comply with all study requirements.
3. Medically stable and can undergo sedation and/or general anesthesia without intubation.
4. Male or female between 2 and ≤ 50 years of age, depending on the specific cohort, at the time of the in-clinic Screening visit.
5. If applicable, is currently receiving stable doses of concomitant medications typically prescribed for AS, such as anti-epileptic medication, behavioral management medications, sleep medications, gabapentin, cannabidiol, and special diets, supplements, or nutritional support for at least 8 weeks prior to the Baseline visit. If recent changes (\< 8 weeks stable) in medications, the participant may be allowed per Investigator judgment if the change is not expected to have an impact on the signs and symptoms of AS.
6. LAR/caregiver(s) agree(s) not to post any of the participant's personal medical data or information related to the study on any website or social media site (e.g., Facebook, Instagram, X, YouTube, TikTok, WhatsApp) from the time of enrollment until they are notified that the study is completed.

Key Exclusion Criteria:

1. Participant has a clinical diagnosis of AS with molecular confirmation of a UBE3A deletion or UBE3A mutation.
2. Any clinically significant abnormalities in medical history (e.g., major surgery within 3 months of Screening), or on physical examination for which treatment with an antisense oligonucleotide (ASO) would be contraindicated or which, in the opinion of the Investigator, could confound the results of this study.
3. Known brain or spinal disease that would interfere with the lumbar puncture (LP) procedure, cerebrospinal fluid (CSF) circulation, or presence of other factors that would affect the safety of the LP procedure, including tumors or abnormalities by MRI or computed tomography (CT), subarachnoid hemorrhage, suggestion of raised intracranial pressure (ICP) on magnetic resonance imaging (MRI) or ophthalmic examination, Chiari malformation, obstructive hydrocephalus, syringomyelia, tethered spinal cord syndrome, or connective tissue disorders such as Ehlers-Danlos syndrome and Marfan syndrome.
4. Any laboratory abnormalities or any other clinically significant abnormalities that would, as assessed by the Investigator, at Screening or Baseline, render a participant unsuitable for inclusion.
5. Previous treatment with an oligonucleotide (including small interfering ribonucleic acid \[siRNA\] and ASOs) or gene therapy or gene editing. This exclusion criterion does not apply to approved nucleic acid-based vaccines, including messenger Ribonucleic Acid (mRNA) vaccines, which are allowed.

Other inclusion/exclusion criteria may apply

Where it's running

• University of North Carolina at Chapel Hill School of Medicine
  Carrboro, North Carolina, United States Recruiting

Study contacts

• Study coordinator: Ionis Pharmaceuticals, Inc.
• Email: Champion@clinicaltrialmedia.com
• Phone: (844) 373-1141

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Rugonersen in Angelman Syndrome (phase 3)

  This trial tests whether rugonersen given into the spine can help people with Angelman syndrome, compared with a sham procedure.

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• Tracking changes in Angelman syndrome over 12 months

  This study will see how developmental skills, behavior, sleep, and brain activity change over one year in children and adults with a genetically confirmed diagnosis of Angelman syndrome.

  Recruiting Massachusetts General Hospital · Lexington, Massachusetts · NCT07417137

• MVX-220 gene therapy for Angelman syndrome

  This study will try a single dose of MVX-220 gene therapy injected into the cisterna magna for children and adults with Angelman syndrome caused by UBE3A deletion, uniparental disomy, or imprinting center defects.

  Recruiting at 3 sites Phase 1/2 MavriX Bio, LLC · Los Angeles, California and 2 other locations · NCT07181837

• Using eye tracking to understand social perception in children with Angelman syndrome

  This study is testing how children with Angelman syndrome see and understand social situations compared to healthy kids, using eye tracking technology to help find ways to measure their progress in future treatments.

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• Understanding brain connectivity in drug-resistant epilepsy and neurodevelopmental syndromes

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  Recruiting IRCCS Eugenio Medea · Conegliano, Treviso · NCT06353620

• Natural history observation for Angelman syndrome patients

  This study is trying to learn more about how Angelman syndrome affects patients over nine years by regularly checking their motor skills, thinking abilities, and quality of life.

  Recruiting Centre Hospitalier Universitaire de Liege · Liège, Liège · NCT06229769

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.