RECRUITING

A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)

Conditions

Quick Navigation

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

The main goal of the study is to evaluate the safety and efficacy of GTX-102 in participants with Angelman Syndrome.

Official Title

A Phase 2, Open-label, Basket Study Investigating the Safety and Efficacy of GTX-102 in Adult and Pediatric Subjects With Deletion- or Nondeletion-type Angelman Syndrome

Quick Facts

Study Start:2025-11

Study Completion:2030-01

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT07157254

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Year to 64 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT

Inclusion Criteria	Exclusion Criteria
1. Signed informed consent from parent(s) or legal guardian(s) 2. Males and females of the following ages and genotypes at time of informed consent: 1. Subprotocol A: ≥ 1 to \< 4 years of age with a genetically confirmed diagnosis of deletion-type Angelman Syndrome 2. Subprotocol B: ≥ 4 to \< 18 years of age with a genetically confirmed diagnosis of UPD/ICD Angelman Syndrome 3. Subprotocol C: ≥ 18 to \< 65 years of age with a genetically confirmed diagnosis of Angelman Syndrome, any genotype 4. Subprotocol D: ≥ 4 to \< 18 years of age with a genetically confirmed diagnosis of mutation-type Angelman Syndrome 3. Weight ≥ 8 kg at Screening Visit 4. Platelet count, prothrombin time / international normalized ratio, and partial thromboplastin time \< 1.5x the upper limit of normal and platelets \> 75,000 cells/mm3 at the Screening Visit 5. Willing and able to comply with scheduled visits, drug administration plan, laboratory tests, and all study procedures, including lumbar puncture (LP) procedure, magnetic resonance imaging (MRI) and tolerating anesthesia without intubation 6. 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	1. Any change in medications or diet/supplements intended to treat symptoms of Angelman Syndrome (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) 2. Any condition that creates an increased risk of unsuccessful lumbar puncture 3. Current or expected concomitant use of drugs that increase the risk of bleeding (eg, heparin, low molecular weight heparin, platelet inhibitors) 4. Known hypersensitivity to GTX-102 or its excipients or required premedication that, in the judgment of the Investigator, places the subject at increased risk for adverse effects 5. Presence or history of any condition, lab abnormality, or infection that, in the judgment of the Investigator, would interfere with study participation, pose undue safety risk, or would confound interpretation of results 6. Pregnant or breastfeeding or planning to become pregnant (self or partner) at any time during the study 7. 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 an ASO regardless of length of time since last use 8. Concurrent participation in any interventional study

Inclusion Criteria

Exclusion Criteria

1. Signed informed consent from parent(s) or legal guardian(s)
2. Males and females of the following ages and genotypes at time of informed consent:
1. Subprotocol A: ≥ 1 to \< 4 years of age with a genetically confirmed diagnosis of deletion-type Angelman Syndrome
2. Subprotocol B: ≥ 4 to \< 18 years of age with a genetically confirmed diagnosis of UPD/ICD Angelman Syndrome
3. Subprotocol C: ≥ 18 to \< 65 years of age with a genetically confirmed diagnosis of Angelman Syndrome, any genotype
4. Subprotocol D: ≥ 4 to \< 18 years of age with a genetically confirmed diagnosis of mutation-type Angelman Syndrome
3. Weight ≥ 8 kg at Screening Visit
4. Platelet count, prothrombin time / international normalized ratio, and partial thromboplastin time \< 1.5x the upper limit of normal and platelets \> 75,000 cells/mm3 at the Screening Visit
5. Willing and able to comply with scheduled visits, drug administration plan, laboratory tests, and all study procedures, including lumbar puncture (LP) procedure, magnetic resonance imaging (MRI) and tolerating anesthesia without intubation
6. 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

1. Any change in medications or diet/supplements intended to treat symptoms of Angelman Syndrome (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)
2. Any condition that creates an increased risk of unsuccessful lumbar puncture
3. Current or expected concomitant use of drugs that increase the risk of bleeding (eg, heparin, low molecular weight heparin, platelet inhibitors)
4. Known hypersensitivity to GTX-102 or its excipients or required premedication that, in the judgment of the Investigator, places the subject at increased risk for adverse effects
5. Presence or history of any condition, lab abnormality, or infection that, in the judgment of the Investigator, would interfere with study participation, pose undue safety risk, or would confound interpretation of results
6. Pregnant or breastfeeding or planning to become pregnant (self or partner) at any time during the study
7. 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 an ASO regardless of length of time since last use
8. Concurrent participation in any interventional study

Contacts and Locations

Study Contact

Patients Contact Trial Recruitment

CONTACT

1-888-756-8657

Trialrecruitment@ultragenyx.com

HCPs Contact: Medical Information

CONTACT

1-888-756-8657

medinfo@ultragenyx.com

Principal Investigator

Medical Director

STUDY_DIRECTOR

Ultragenyx Pharmaceutical Inc

Study Locations (Sites)

Rare Disease Research

Hillsborough, North Carolina, 27278

United States

Collaborators and Investigators

Sponsor: Ultragenyx Pharmaceutical Inc

Medical Director, STUDY_DIRECTOR, Ultragenyx Pharmaceutical Inc

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2025-11

Study Completion Date2030-01

Study Record Updates

Study Start Date2025-11

Study Completion Date2030-01

Terms related to this study

Keywords Provided by Researchers

Angelman Syndrome

Additional Relevant MeSH Terms

Angelman Syndrome