Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With AS
- Registration Number
- NCT06617429
- Lead Sponsor
- Ultragenyx Pharmaceutical Inc
- Brief Summary
The primary objective of this study is to evaluate the effect of GTX-102 in cognitive function in participants with deletion-type Angelman Syndrome (AS).
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 120
- 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, MRI, and tolerating anesthesia without intubation
- From the time of informed consent through to at least 6 months after the final dose of GTX-102, females of childbearing potential who are sexually active must use highly effective contraception or abstinence. Males are able to participate if they agree to remain abstinent (refrain from heterosexual intercourse) or use acceptable contraceptive methods during the study and for at least 3 months after the final dose of GTX-102
Key
- 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, lab abnormality, or infection, that, in the judgement of the Investigator, would interfere with participation, pose undue safety risk, or would confound interpretation of results
- Pregnant or breastfeeding or planning to become pregnant (self or partner) at any time during the study
- 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 interventional study
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- PARALLEL
- Arm && Interventions
Group Intervention Description GTX-102 GTX-102 Participants will receive GTX-102 via lumbar puncture (LP) during both the double-blind and open-label period Sham-LP then GTX-102 GTX-102 Participants will receive sham procedure during the double-blind period and then will receive GTX-102 via LP during the open-label period Sham-LP then GTX-102 Sham-LP Participants will receive sham procedure during the double-blind period and then will receive GTX-102 via LP during the open-label period
- Primary Outcome Measures
Name Time Method Change from Baseline in Bayley-4 Cognitive Raw Score Without Caregiver Input at Day 338 Baseline, Day 338
- Secondary Outcome Measures
Name Time Method Net Response in Multidomain Responder Index (MDRI) Day 338 Change from Baseline in ABC-C Hyperactivity/Noncompliance Subscale Score at Day 338 Baseline, Day 338 Change from Baseline in Bayley-4 Receptive Communication Raw Score at Day 338 Baseline, Day 338 Change from Baseline in Angelman Severity Assessment (ASA) Sleep Rating Raw Score at Day 338 Baseline, Day 338 Change from Baseline in Vineland Adaptive Behavior Scales-3 (Vineland-3) Receptive Communication Raw Score at Day 338 Baseline, Day 338 Change from Baseline in Vineland-3 Expressive Communication Raw Score at Day 338 Baseline, Day 338 Change from Baseline in Bayley-4 Gross Motor Raw Score at Day 338 Baseline, Day 338 Change from Baseline in ASA Gross Motor Rating at Day 338 Baseline, Day 338 Number of Participants with Treatment Emergent Adverse Events (AEs) and Serious Adverse Events (SAEs), Severity of AEs and Relationship to Investigational Drug, Procedure, and Premedication 2 Years
Trial Locations
- Locations (23)
Clinical Trial Site
πͺπΈSeville, Spain
University of Leipzig
π©πͺLeipzig, Germany
Nagoya City University Graduate School of Medical Sciences
π―π΅Nagoya, Aichi, Japan
Cedars Sinai
πΊπΈLos Angeles, California, United States
UCSD, Rady Children's Hospital
πΊπΈSan Diego, California, United States
UCSF
πΊπΈSan Francisco, California, United States
Nicklaus Children's Hospital
πΊπΈMiami, Florida, United States
Rare Disease Research
πΊπΈHillsborough, North Carolina, United States
Rush University
πΊπΈChicago, Illinois, United States
Boston Children's Hospital
πΊπΈBoston, Massachusetts, United States
Children's Mercy
πΊπΈKansas City, Missouri, United States
Columbia University Medical Center
πΊπΈNew York, New York, United States
UNC Chapel Hill Pediatrics
πΊπΈChapel Hill, North Carolina, United States
The University of Texas
πΊπΈAustin, Texas, United States
Carum Research Inc
πΊπΈDallas, Texas, United States
British Columbia Children's Hospital
π¨π¦Vancouver, Canada
Universitaetsklinikum Hamburg-Eppendorf
π©πͺHamburg, Germany
Haunersche Kinderklinik
π©πͺMunich, Germany
Osaka City General Hospital
π―π΅Osaka, Japan
Hokkaido University Hospital
π―π΅Sapporo, Japan
Medical University of GdaΕsk
π΅π±GdaΕsk, Poland
Polish Mothers Memorial Institute
π΅π±ΕΓ³dΕΊ, Poland
Hospital Universitario Parc Tauli
πͺπΈBarcelona, Spain