obudanersen: obudanersen will be administered by IT injection.
Placebo: obudanersen matching placebo will be administered by IT injection.
Study summary
The purpose of this study is to evaluate the efficacy and safety of obudanersen in children and adults with Angelman syndrome caused by a deletion or mutation of the UBE3A gene.
Eligibility
Sex
ALL
Min age
2 Years
Max age
50 Years
Healthy volunteers
No
Key Inclusion Criteria:
1. The participants caregiver(s)/ legally authorized representative must have given written informed consent and any authorizations required by local law and be able to comply with all study requirements.
2. Medically stable and can undergo sedation and/or general anesthesia without intubation.
3. Male or female between 2 and lesser than or equal to (≤)50 years of age, depending on specific cohort, at the time of the in-clinic Screening visit.
4. Participant has a clinical diagnosis of Angelman syndrome (AS) with molecular confirmation of either Ubiquitin-protein ligase E3A (UBE3A) deletion or UBE3A mutation.
5. 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.
6. Legally authorized representative/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 (formerly Twitter), YouTube, TikTok, etc.) from the time of enrollment until they are notified that the study is completed.
Key Exclusion Criteria:
1. Must not have 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 Principal Investigator (PI), could confound the results of this study.
2. Known brain or spinal disease that would interfere with the lumbar puncture (LP) procedure, cerebrospinal fluid (CSF) circulation, or presence of other factors would affect the safety of the LP procedure.
3. Must not have any other conditions, which, in the opinion of the Investigator, would make the participant unsuitable for inclusion or could interfere with the participant participating in or completing the study.
4. Must not have 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 (RNA) \[siRNA\], ASOs) gene therapy or gene editing. This exclusion criterion does not apply to approved nucleic acid-based vaccines, including mRNA vaccines, which are allowed.
6. Has molecular confirmation of AS due to paternal uniparental disomy, imprinting center defect, or mosaic findings.
Other inclusion/exclusion criteria may apply.
Primary outcome measure(s)
Change in Performance on the Expressive Communication Subdomain Raw Score of the Bayley Scales for Infant and Toddler Development-4 (Bayley-4) Without Caregiver Input in Cohort 1 — Baseline and Week 52 The Bayley-4 is a performance-based assessment of developmental functioning across communication, cognition, and motor skills. The expressive communication subdomain of communication measures preverbal and verbal communication. The total raw score reflects the sum of all the item scores within the expressive communication subdomain, with higher scores reflecting greater expressive communication ability.
Trial sites (41)
Facility
City
Region
Status
Cedars-Sinai Medical Center
Los Angeles
California
Recruiting
UCLA Clinical & Translational Research Center (CTRC)
Los Angeles
California
Recruiting
Rady Children's Hospital
San Diego
California
Recruiting
Colorado Children's Hospital Research Institute
Aurora
Colorado
Recruiting
Children's National Hospital
Washington D.C.
District of Columbia
Recruiting
Nicklaus Children's Hospital
Miami
Florida
Recruiting
Children's Healthcare of Atlanta
Atlanta
Georgia
Recruiting
Rush University Medical Center
Chicago
Illinois
Recruiting
Boston Children's Hospital
Boston
Massachusetts
Recruiting
Children's Mercy
Kansas City
Missouri
Recruiting
Ichan School of Medicine at Mount Sinai
New York
New York
Recruiting
Columbia University Irving Medical Center
New York
New York
Recruiting
University of North Carolina at Chapel Hill School of Medicine
Carrboro
North Carolina
Recruiting
Cincinnati Children's Hospital
Cincinnati
Ohio
Recruiting
Nationwide Children's Hospital
Columbus
Ohio
Recruiting
Children's Hospital of Philadelphia
Philadelphia
Pennsylvania
Recruiting
Vanderbilt Clinical Research Center
Nashville
Tennessee
Recruiting
Texas Children's Hospital
Houston
Texas
Recruiting
Queensland Children's Hospital
South Brisbane
Queensland
Recruiting
Austin Hospital
Heidelberg
Australia
Recruiting
Perth Children's Hospital
Nedlands
Australia
Recruiting
Sydney Children's Hospital
Randwick
Australia
Recruiting
London Health Science Centre - Children's Hospital
London
Ontario
Recruiting
McGill University Health Centre
Montreal
Quebec
Recruiting
University of Alberta Hospital
Edmonton
Canada
Recruiting
British Columbia Children's Hospital
Vancouver
Canada
Recruiting
Klinikum der Ludwig-Maximilians-Universitaet Muenchen
München
Germany
Recruiting
Sheba Medical Center
Ramat Gan
Israel
Recruiting
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan
Italy
Recruiting
Azienda Ospedaliero Universitaria Pisana
Pisa
Italy
Recruiting
Ospedale Pediatrico Bambino Gesù
Roma
Italy
Recruiting
Osaka Women's and Children's Hospital
Izumi
Osaka
Recruiting
National Center of Neurology and Psychiatry
Kodaira
Tokyo
Recruiting
Uniwersyteckie Centrum Kliniczne
Gdansk
Poland
Recruiting
KK Women's and Children's Hospital
Singapore
Singapore
Recruiting
Seoul National University Hospital
Seoul
South Korea
Recruiting
Samsung Medical Center
Seoul
South Korea
Recruiting
Hospital Sant Joan de Deu
Barcelona
Spain
Recruiting
Corporacio Sanitaria Parc Tauli - Hospital de Sabadell
Sabadell
Spain
Recruiting
Great Ormond Street Hospital for Children - NHS Foundation Trust
London
United Kingdom
Recruiting
+ 1 more sites — see the full list on the official registry below.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
We use cookies to analyse site traffic and improve your experience. With your consent, we may also use cookies for advertising. You can change your choice at any time.