Angelman Syndrome
Conditions
Interventions
GTX-102
Dose Formulation 2.0mg/mL vial
Unit Dose Strength(s)/Dosage Level(s) 8mg to 14 mg
Route of Administration IT injection via LP
Sponsors
HCPs Contact Medical Information
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: - Signed informed consent from parent(s) or legal guardian(s) - Confirmed diagnosis of AS with genetic confirmation of full maternal ubiquitin-protein ligase E3A (UBE3A) gene deletion causing AS in the region of 15q11.2 q13 - Able to ambulate independently, or with assistance at the Screening Visit (note, a child whose primary means of mobility is by wheelchair is excluded from the study) - Platelet count, prothrombin time / international normalized ratio, and partial thromboplastin time within 1.5x the normal limits at the Screening Visit - Willing and able to comply with scheduled visits, drug administration plan, laboratory tests, and all study procedures, including LP procedure and tolerating anesthesia without intubation
Exclusion criteria
Exclusion criteria: - Any change in medications or diet/supplements intended to treat symptoms of AS (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 LP - 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 that, in the judgment of the Investigator, places the subject at increased risk for adverse effects - Presence or history of any condition that, in the view of the Investigator, would interfere with participation, pose undue risk, or would confound interpretation of results -human immunodeficiency virus (HIV) antibodypositive,hepatitis B (HBs) antigen-positive, HBs or HBc antibody-positive, or TB positive by laboratory testing at the Screening Visit - Use of any investigational product or investigational medical device within 6 months or 5 half-lives prior to the Screening Visit or any prior use of gene therapy or ASO regardless of duration since last administration - Concurrent participation in any study, including observational natural history studies
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| the change from baseline to Day 338 in Bayley-4 Cognitive raw score (without caregiver input) for the GTX-102 group compared with the Sham-LP group | — |
Secondary
| Measure | Time frame |
|---|---|
| Net response in the MDRI at Day 338 | — |
Countries
Australia, Canada, Germany, Italy, Japan, Netherlands, Poland, Spain, United States
Contacts
Public ContactK.K. Worldwide Clinical Trials
Worldwide Clinical Trials Japan K.K., Clinical Operations Site Management
Outcome results
None listed