The primary purpose of the study is to evaluate efficacy of obudanersen in participants with AS due to uniparental disomy or imprinting defects (UPD/ID) as measured through expressive communication.
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.
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.
Medically stable and can undergo sedation and/or general anesthesia without intubation.
Male or female between 2 and ≤ 50 years of age, depending on the specific cohort, at the time of the in-clinic Screening visit.
Participant has a clinical diagnosis of AS with molecular confirmation of a UBE3A deletion or UBE3A mutation.
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.
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.
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.
Single group
obudanersen
DrugION582 will be administered by IT injection.
Change From Baseline in Performance on the Expressive Communication Domain Raw Score Without Caregiver Input of the Bayley Scales for Infant and Toddler Development-4 (Bayley-4) in Cohort 1
Change From Baseline in Bayley-4: Cognition Scale Raw Score Without Caregiver Input
Change From Baseline in Aberrant Behavior Checklist - Second Edition - Community Version (ABC-2-C): Hyperactivity
Change From Baseline in (ABC-2-C): Irritability
Change From Baseline in Vineland Adaptive Behavior Scale-3 (Vineland-3): Receptive Communication Domain Raw Score
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