Gene Replacement Therapy for Treatment of Paediatric Patients With CTNNB1 Neurodevelopmental Synd… (NCT07270549) | Clinical Trial Compass
RecruitingPhase 1/2
Gene Replacement Therapy for Treatment of Paediatric Patients With CTNNB1 Neurodevelopmental Syndrome
Slovenia12 participantsStarted 2025-11-01
Plain-language summary
The goal of this first in human, phase I/II clinical trial is to evaulate the safety, tolerability, and preliminary efficacy of AAV9 mediated gene replacement therapy (Urbagen) in paediatric patients with CTNNB1 neurodevelopmental disorder. The main questions it aims to answer are:
* Is the gene therapy with Urbagen safe and well tolerated?
* Does the gene therapy improve motor function, cognitive function, behavior, sleep, and/or quality of life?
Participants will:
* Undergo screening assessments to ensure eligibility.
* Recieve a single dose of gene therapy via bilateral intracerebroventricular administration.
* Recieve prophylactic immunosuppresants (methylprednisolone, sirolimus).
* Attend follow-up visits for safety monitoring and clinical assessments over the course of three years.
Who can participate
Age range2 Years – 12 Years
SexALL
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Inclusion Criteria:
* Male or female participant aged 2-12 years at the time of informed consent (Part A: 6-12 years, Part B: 2-12 years).
* Child aged 4 to 12 years has to weigh at least 13,3 kg: 5,0E+14 vg.
* Child aged 3 years has to weigh at least 11,96 kg: 4,5E+14 vg.
* Child aged 2 years has to weigh at least 10,94 kg: 4,11E+14 vg.
* Genetically confirmed diagnosis of CTNNB1 syndrome with a heterozygous pathogenic or likely pathogenic variant in the CTNNB1 gene (Class 4/5 according to American College of Medical Genetics and Genomics), confirmed by geneticist at screening.
* Informed consent from the parents/legal guardians of the participant.
* Parents/legal guardians are willing and able to comply with all protocol visits and procedures.
* Parents/legal guardians are willing and able to reside within 1 hour of the site at which the clinical trial will be conducted for at least 4 months post-dosing. Parents/legal guardians will be informed that this period may be increased in the case of a safety event or concern.
* Parents/legal guardians must agree for the participant not to participate in any other interventional study whilst enrolled in this clinical trial.
* Investigator will check vaccination status of each participant and evaluate and confirm its appropriateness per age and participant's home country. The last vaccination dose must be received a minimum of 30 days prior to the start of immunosuppressants.
* Female participants who are post-menarcheal must have …
What they're measuring
1
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]