Ultragenyx_GTX-102-CL301

What is the Purpose of this Study?

GTX-102 is a human ubiquitin-protein ligase E3A antisense (UBE3A-AS) transcript-targeted antisense oligonucleotide (ASO) intended for the treatment of Angelman syndrome (AS). Findings from the Phase 1/2 dose-finding study (GTX-102-001) suggest a positive efficacy signal and favorable benefit risk profile for GTX-102 in pediatric patients with AS. The purpose of this study is to investigate the efficacy and safety of GTX-102 in AS.

Eligibility

* 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

Key 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, 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 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, 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

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Where can I participate?

Beverly

More about this Clinical Trial

What is the full name of this clinical trial?

A Phase 3, Randomized, Double-blind, Placebo-controlled Study Investigating the Efficacy and Safety of GTX-102 in Pediatric Subjects with Angelman Syndrome

Study Details

Disease Type/Condition

Other

Principal Investigator

Ochoa-Lubinoff, Cesar

Co-Investigators

Jeffrey Swarz, Michelle Allen-Sharpley

Age Group

Children

Phase

III

IRB Number

STUDY00003774

ClinicalTrials.gov ID

NCT06617429

Key Eligibility

ClinicalTrials.gov

How do I learn more about this study?

clinicaltrials@cshs.org