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Gene Replacement Therapy for Treatment of Paediatric Patients With CTNNB1 Neurodevelopmental Syndrome

NCT07270549 · Status: RECRUITING · Phase: PHASE1/PHASE2 · Type: INTERVENTIONAL · Enrollment: 12

Last updated 2026-03-25

No results posted yet for this study

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.

Conditions

  • CTNNB1 Neurodevelopmental Syndrome

Interventions

BIOLOGICAL

Urbagen gene addition therapy

Urbagen is a non-replicating single-stranded adeno-associated viral vector 9 encoding for the human β-catenin protein (AAV9/hCTNNB1 vector). It is administered as a single bilateral ICV infusion.

DRUG

Sirolimus

The use of sirolimus will be consistent with other AAV-9 gene therapy protocols. On Day -7 prior to the administration of URBAGEN, participants will receive a loading dose of sirolimus (3 doses of 1 mg/m2 every four hours). The following day, participants will begin a maintenance dose of sirolimus (0,5 mg/m2/day in 2 divided doses daily), which they will continue for a minimum of 10 months.

DRUG

Methylprednisolone (Corticosteroid)

The use of methylprednisolone will be consistent with other AAV-9 gene therapy protocols. On the day of dosing (Day 0), participants will receive a dose of IV methylprednisolone (10 mg/kg to a maximum single dose of 500 mg, infused over 30 minutes). On Day -1 prior to administration of URBAGEN, participants will begin a course of oral prednisolone (1,0 mg/kg/day, maximum dose 30 mg daily). Prednisolone administration will continue for a minimum of four months, followed by a gradual tapering schedule.

Sponsors & Collaborators

  • University Medical Centre Ljubljana

    collaborator OTHER

  • CTNNB1 Foundation

    lead OTHER

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
2 Years
Max Age
12 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-11-01
Primary Completion
2032-12-31
Completion
2032-12-31

Countries

  • Slovenia

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07270549 on ClinicalTrials.gov