A Long-term Extension Trial Investigating the Safety and Efficacy of GTX-102 in Patients with Angelman Syndrome

Phase 1

Conditions: Angelman Syndrome
MedDRA version: 20.0Level: PTClassification code: 10049004Term: Angelman's syndrome Class: 100000004850
Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]

Registration Number: CTIS2024-510917-14-00

Lead Sponsor: ltragenyx Pharmaceutical Inc.

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: 75

Inclusion Criteria

Signed informed consent from parent(s) or legal guardian(s)., Prior participation in a clinical trial with GTX-102; including completion of the Loading phase/period, with approval from the Ultragenyx Medical Monitor. The Screening visit must occur within 6 months of the last visit in the prior GTX-102 study., From the time of informed consent through the end of the study and for 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.

Exclusion Criteria

Discontinued from prior GTX-102 study due to treatment-emergent adverse event assessed as related to GTX-102 and where the risk of study participation outweighs the benefits as deemed by the clinical judgement of the Investigator., History or evidence of any other medical, neurological, or psychological condition that would expose the subject to an undue risk of a significant AE or interfere with study assessments during the course of the trial as determined by the clinical judgment of the investigator., Known hypersensitivity to GTX-102 or its excipients that, in the judgment of the Investigator, places the subject at increased risk for adverse effects., Pregnant or breastfeeding or planning to become pregnant (self or partner) at any time during the study.

Study & Design

Study Type: Interventional clinical trial of medicinal product

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Main Objective: Evaluate the long-term safety profile of GTX-102 in subjects with AS;Secondary Objective: To evaluate the long-term efficacy of GTX-102 in cognitive function, communication, and motor skills and function.;Primary end point(s): Treatment-emergent AEs and SAEs, frequency, severity, and relationship to investigational product throughout the study

Secondary Outcome Measures

Name	Time	Method
Secondary end point(s):Change from LTE Month 0 and pretreatment (when available) throughout the study in: • Bayley-4 Cognition raw score • Bayley-4 Receptive Communication raw score • Bayley-4 Expressive Communication raw score • Bayley-4 Gross Motor raw score • Bayley-4 Fine Motor raw score