A Safety and Efficacy Study of GTX-102 in Subjects With Deletion- or Nondeletion-type Angelman Syndrome (AS)
NCT ID: NCT07157254
Last Updated: 2025-11-12
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
PHASE2
60 participants
INTERVENTIONAL
2025-10-13
2030-01-31
Brief Summary
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Detailed Description
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Conditions
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Keywords
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Study Design
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RANDOMIZED
PARALLEL
TREATMENT
NONE
Study Groups
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Subprotocol A GTX-102
Participants with deletion-type Angelman syndrome, ≥1 to \<4 years of age will receive increasing doses of GTX-102 via intrathecal (IT) injection until the target dose is achieved. Dosing occurs every 3 months (Q3M) thereafter.
GTX-102
antisense oligonucleotide
Subprotocol B GTX-102
Participants with paternal uniparental disomy (UPD)/imprinting center defect (ICD) Angelman syndrome, ≥4 to \<18 years of age will receive increasing doses of GTX-102 via IT injection until the target dose is achieved. Dosing occurs Q3M thereafter.
GTX-102
antisense oligonucleotide
Subprotocol C GTX-102
Participants with all genotypes of Angelman syndrome, ≥18 to \<65 years of age will receive increasing doses of GTX-102 via IT injection until the target dose is achieved. Dosing occurs Q3M thereafter.
GTX-102
antisense oligonucleotide
Subprotocol D GTX-102
Participants with mutation-type Angelman syndrome, ≥4 to \<18 years of age will receive increasing doses of GTX-102 via IT injection until the target dose is achieved. Dosing occurs Q3M thereafter.
GTX-102
antisense oligonucleotide
Subprotocol D No Intervention then GTX-102
Participants with mutation-type Angelman syndrome, ≥4 to \<18 years of age will receive no treatment during the initial period. At the end of the no treatment period, participants will receive increasing doses of GTX-102 via IT injection until the target dose is achieved. Dosing occurs Q3M thereafter.
No intervention
During the no treatment period participants do not receive any study drug
GTX-102
antisense oligonucleotide
Interventions
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No intervention
During the no treatment period participants do not receive any study drug
GTX-102
antisense oligonucleotide
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
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
Exclusion Criteria
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
1 Year
64 Years
ALL
No
Sponsors
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Ultragenyx Pharmaceutical Inc
INDUSTRY
Responsible Party
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Principal Investigators
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Medical Director
Role: STUDY_DIRECTOR
Ultragenyx Pharmaceutical Inc
Locations
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Clinical Trial Site
Los Angeles, California, United States
Clinical Trial Site
Chicago, Illinois, United States
Clinical Trial Site
Baltimore, Maryland, United States
Clinical Trial Site
Kansas City, Missouri, United States
Rare Disease Research
Hillsborough, North Carolina, United States
Akron Children's Hospital
Akron, Ohio, United States
Clinical Trial Site
Philadelphia, Pennsylvania, United States
Clinical Trial Site
Austin, Texas, United States
Carum Research Inc.
Dallas, Texas, United States
Clinical Trial Site
Pilar, Buenos Aires, Argentina
Clinical Trial Site
Curitiba, Paraná, Brazil
Clinical Trial Site
Santa Cecília, Porto Alegre, Brazil
Clinical Trial Site
Marseille, , France
Clinical Trial Site
Paris, , France
Clinical Trial Site
Ramat Gan, , Israel
Clinical Trial Site
Florence, , Italy
Clinical Trial Site
Milan, , Italy
Clinical Trial Site
Rome, , Italy
Clinical Trial Site
Lisbon, , Portugal
Clinical Trial Site
Porto, , Portugal
Clinical Trial Site
London, , United Kingdom
Clinical Trial Site
Oxford, , United Kingdom
Countries
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Central Contacts
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Related Links
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Ultragenyx Patient Advocacy Website
Ultragenyx Transparency Commitment
Other Identifiers
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2024-519393-39-00
Identifier Type: CTIS
Identifier Source: secondary_id
GTX-102-CL210
Identifier Type: -
Identifier Source: org_study_id