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 range
2 Years – 12 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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 …
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]