The main goal of the study is to evaluate the safety and efficacy of GTX-102 in participants with Angelman syndrome.
Signed informed consent from parent(s) or legal guardian(s)
Subprotocol A: ≥ 1 to < 4 years of age with a genetically confirmed diagnosis of deletion-type Angelman syndrome
Subprotocol B: ≥ 4 to < 18 years of age with a genetically confirmed diagnosis of UPD/ICD Angelman syndrome
Subprotocol C: ≥ 18 to < 65 years of age with a genetically confirmed diagnosis of Angelman syndrome, any genotype
Any change in medications or diet/supplements intended to treat symptoms of Angelman Syndrome (eg, sleeping aids, antiseizure medications, supplements, dietary change including ketogenic or low-glycemic index diet, other) within the month prior to the Screening Visit (excluding weight-based adjustments)
Any condition that creates an increased risk of unsuccessful lumbar puncture
Current or expected concomitant use of drugs that increase the risk of bleeding (eg, heparin, low molecular weight heparin, platelet inhibitors)
Known hypersensitivity to GTX-102 or its excipients or required premedication that, in the judgment of the Investigator, places the subject at increased risk for adverse effects
Parallel
No intervention
Other interventionDuring the no treatment period participants do not receive any study drug
GTX-102
Drugantisense oligonucleotide
Subprotocol A/B/C/D: Number of Participants with Treatment Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs), Severe Events, and Events Related to Investigational Product, Procedure, and Premedication
Subprotocol A Only: Bayley-4 Cognitive Without Caregiver Input Raw Score Change from Baseline at Day 338
Subprotocol B/D Only: Multidomain Responder Index (MDRI) Net Response at Day 338
The following assessments will be included to calculate the MDRI net response: Bayley-4 Cognitive and Receptive Communication, Aberrant Behavior Checklist- Community (ABC-C) Hyperactivity/Noncompliance (H/N), Angelman Severity Assessment (ASA) Sleep, ASA Gross Motor. For each assessment a meaningful score difference (MSD) is defined. A single net response score per participant will be derived accordingly, and a summary measure of net response will then be calculated across all participants.
Subprotocol C Only: MDRI Net Response at Day 338
The following assessments will be included to calculate the MDRI net response: Vineland-3 Expressive and Receptive Communication, ABC-C Irritability, ASA Gross Motor. For each assessment a meaningful score difference (MSD) is defined. A single net response score per participant will be derived accordingly, and a summary measure of net response will then be calculated across all participants.
Subprotocol A/B/D Only: Change From Baseline at Day 338 in Bayley-4 Receptive Communication Raw Score
Subprotocol A/B/D Only: Change From Baseline at Day 338 in Bayley-4 Gross Motor Raw Score
Subprotocol B/D Only: Change From Baseline at Day 338 in Bayley-4 Cognitive Raw Score
Subprotocol B/C/D Only: Change From Baseline at Day 338 in Vineland-3 Receptive Communication Raw Score
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