Long-term Extension of GTX-102 in Angelman Syndrome

NCT06415344 | Enrolling By Invitation Phase 3 DMC FDA Drug

• 2 other identifiers: GTX-102-CL3022024-510917-14-00
• Study Type: interventional
• Target: 255
• Locations: 8 countries
• Sites: 23

Brief Summary

The primary objective of the study is to evaluate the long-term safety profile of GTX-102 in participants with Angelman Syndrome (AS)

Conditions

Angelman Syndrome

Outcome Measures

Primary Outcomes (1)

• Frequency, Severity, and Relationship to Investigational Drug of Treatment Emergent Adverse Events (AEs) and Serious Adverse Events (SAEs)

  5 Years

Secondary Outcomes (1)

• Change from LTE Month 0 and Pretreatment in the Bayley-4 Raw Score

  Month 0, 5 Years

Study Arms (1)

GTX-102

EXPERIMENTAL

Participants will receive GTX-102 via intrathecal lumbar puncture (IT LP) on a intrapatient flexible dosing schedule.

Drug: GTX-102

Interventions

GTX-102 DRUG

Antisense Oligonucleotide

Also known as: apazunersen

GTX-102

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Signed informed consent from parent(s) or legal guardian(s).
• Completed a final study visit in a prior clinical trial with GTX-102. If the subject has an ongoing adverse event, medical monitor approval is required to rollover. The Screening visit must occur within 6 months of the last visit in the prior GTX-102 trial.
• 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.

You may not qualify if:

• Discontinued from prior GTX-102 trial 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 judgment 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

Sponsors & Collaborators

• Ultragenyx Pharmaceutical Inc: lead

Study Sites (23)

University of California, Los Angeles (UCLA)

Los Angeles, California, 90095, United States

Location

University of California, San Diego - Rady Children's Hospital

San Diego, California, 92123, United States

Location

Rare Disease Research, LLC

Atlanta, Georgia, 30329, United States

Location

Rush University Medical Center

Chicago, Illinois, 60612, United States

Location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

Weill Cornell Medicine

New York, New York, 10021, United States

Location

Queensland Children's Hospital

South Brisbane, Queensland, 4101, Australia

Location

The Royal Children's Hospital

Melbourne, Victoria, 3052, Australia

Location

MAGIC Clinic Ltd

Calgary, Alberta, T2E 7Z4, Canada

Location

British Columbia Children's Hospital

Vancouver, British Columbia, V6H 3V4, Canada

Location

Childrens Hospital London Health Sciences Centre

London, Ontario, N6A 5W9, Canada

Location

Childrens Hospital of Eastern Ontario

Ottawa, Ontario, K1H 8L1, Canada

Location

The Research Institute of the McGill University Health Centre

Montreal, Quebec, H3G 1A4, Canada

Location

AP-HM - Hopital de la Timone

Marseille, 13385, France

Location

AP-HP Hopital Necker-Enfants Malades

Paris, 75015, France

Location

Universitaetsklinikum Hamburg-Eppendorf

Hamburg, 20246, Germany

Location

Universitaetsklinikum Leipzig

Leipzig, 04103, Germany

Location

Sheba Medical Center

Ramat Gan, 5265601, Israel

Location

Hospital Universitario Puerta de Hierro

Majadahonda, 28222, Spain

Location

Corporacio Sanitaria Parc Tauli - Hospital de Sabadell

Sabadell, 08208, Spain

Location

University of Cambridge

Cambridge, CB2 0QQ, United Kingdom

Location

Great Ormond Street Hospital for Children

London, WC1N 3JH, United Kingdom

Location

Oxford University Hospitals NHS Foundation Trust

Oxford, OX3 9DU, United Kingdom

Location

Related Links

• Ultragenyx Patient Advocacy Website
• Ultragenyx Transparency Commitment
• Ultragenyx Angelman Syndrome (AS) Research Study Opportunity

MeSH Terms

Conditions

Angelman Syndrome

Condition Hierarchy (Ancestors)

Movement Disorders; Central Nervous System Diseases; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders

Study Officials

• Medical Director

  Ultragenyx Pharmaceuticals Inc.

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: phase 3
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 10, 2024
• First Posted: May 16, 2024
• Study Start: July 31, 2024
• Primary Completion (Estimated): February 1, 2029
• Study Completion (Estimated): February 1, 2029
• Last Updated: May 6, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

AU (2); CA (5); DE (2); ES (2); US (6); IL (1); FR (2); GB (3)