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

Recruiting now · Phase 2

Conditions studied: Angelman Syndrome

In brief

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

Key facts

Study ID

NCT07157254

Run by

Ultragenyx Pharmaceutical Inc

People needed

60

Starts

2025-10-13

Expected to finish

2030-01-01

Last updated by the study team

2026-08-07

Who can join

Age: 1 and older, up to 64. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Signed informed consent from parent(s) or legal guardian(s)
• Males and females of the following ages and genotypes at time of informed consent:
• Subprotocol A: ≥ 1 to < 4 years of age with a genetically confirmed diagnosis of deletion-type Angelman syndrome
• Subprotocol B: ≥ 4 to < 18 years of age with a genetically confirmed diagnosis of UPD/ICD Angelman syndrome
• Subprotocol C: ≥ 18 to < 65 years of age with a genetically confirmed diagnosis of Angelman syndrome, any genotype
• Subprotocol D: ≥ 4 to < 18 years of age with a genetically confirmed diagnosis of mutation-type Angelman syndrome
• Weight ≥ 8 kg at Screening Visit
• 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
• 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
• 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

You may not qualify if…

• 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)
• Any condition that creates an increased risk of unsuccessful lumbar puncture
• 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 or required premedication 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 judgment of the Investigator, would interfere with study 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 an ASO regardless of length of time since last use
• Concurrent participation in any interventional study

Where it is running

• University of Oxford — Oxford, United Kingdom (enrolling)
• Rush University Medical Center — Chicago, Illinois, United States (enrolling)
• Kennedy Kreiger Institute — Baltimore, Maryland, United States (enrolling)
• Hospital de Santa Maria — Lisbon, Portugal (enrolling)
• Hospital Santa Joao — Porto, Portugal (enrolling)
• Cedars Sinai Medical Center — Los Angeles, California, United States (enrolling)
• Rare Disease Research — Hillsborough, North Carolina, United States (enrolling)
• Akron Children's Hospital — Akron, Ohio, United States (enrolling)
• UT Health Austin — Austin, Texas, United States (enrolling)
• Carum Research Inc. — Dallas, Texas, United States (enrolling)
• Hospital Universitario Austral — Pilar, Buenos Aires, Argentina (enrolling)
• Hospital de Crianças César Pernetta e Hospital Pequeno Príncipe — Curitiba, Paraná, Brazil (enrolling)
• Casa dos Raros — Santa Cecília, Porto Alegre, Brazil (enrolling)
• Hopital de la Timone — Marseille, France (enrolling)
• Necker-Enfants Malades Hospital — Paris, France (enrolling)
• Sheba Medical Center — Ramat Gan, Israel (enrolling)
• Azienda Ospedaliera Universitaria Meyer IRCCS — Florence, Italy (enrolling)
• Fondazione IRCCS Istituto Neurologico C. Besta — Milan, Italy (enrolling)
• Clinical Trial Site — Kansas City, Missouri, United States
• Clinical Trial Site — Rome, Italy
• Clinical Trial Site — London, United Kingdom

Full record on ClinicalTrials.gov

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