In short
Clinical trials are studying ADENO-ASSOCIATED VIRAL VECTOR SEROTYPE 9 CONTAINING THE HUMAN CTNNB1 GENE in children with CTNNB1 syndrome. The main goals are to check safety, tolerability, and early signs of benefit after a single intracerebroventricular treatment. These trials focus on pediatric patients with this rare condition.
Key points
- Clinical trials are studying ADENO-ASSOCIATED VIRAL VECTOR SEROTYPE 9 CONTAINING THE HUMAN CTNNB1 GENE in children with CTNNB1 syndrome. The listed study is a Phase 1/2, open-label trial with 12 planned participants. It is designed to assess safety, tolerability, and early signs of efficacy after a single intracerebroventricular administration. The trial also measures several clinical and lab outcomes, including adverse events, blood and urine tests, brain scans, EEG, ECG, and AAV9 antibodies. The study status is authorised.
Trial overview
The trial titled GAIN-CTNNB1 is an open-label, interventional study of ADENO-ASSOCIATED VIRAL VECTOR SEROTYPE 9 CONTAINING THE HUMAN CTNNB1 GENE in pediatric patients with CTNNB1 syndrome. The brief summary says the study is testing URBAGEN given by bilateral intracerebroventricular injection to assess safety and tolerability.
Who can participate
The trial is for pediatric patients, which means children. The condition required for enrollment is CTNNB1 syndrome. No other eligibility details are provided in the trial data.
What is being measured
The main outcomes focus on safety checks. These include the incidence, severity, and causality of adverse events and serious adverse events, which means the study looks at what unwanted medical problems happen, how serious they are, and whether they are linked to the treatment.
The study also measures changes in blood tests, including blood count, kidney function, liver function, and clotting tests, as well as urine and cerebrospinal fluid (CSF) compared with baseline, which means compared with the patient’s starting point before treatment. Other outcomes include changes in cardiorespiratory parameters, new cardiovascular findings on ECG or echocardiogram, changes on EEG, changes in head circumference and MRI brain volume, and the presence of AAV9 antibodies in serum.
Trial design and phase
This study is a Phase 1/2 trial. Phase 1/2 trials are early studies that usually begin by checking safety and then collect early information about possible benefit. The trial is also described as open-label, meaning the treatment is not hidden from the study team and participants.
The intervention listed is a single intracerebroventricular administration, which means the treatment is given once into the brain’s fluid spaces called ventricles.
Study status and size
The trial status is Authorised. The planned enrollment is 12 participants, so this is a small early-stage study.
What these trial terms mean for patients
Safety means the researchers are checking for harm or side effects during the study. Tolerability means how well children can handle the treatment overall. Efficacy means whether the treatment shows signs of helping the condition, even if that benefit is still early and not yet proven.
Tests like ECG, echocardiogram, EEG, MRI, blood work, and urine testing are used to watch for changes in the heart, brain, and other body systems during the study. These measurements help researchers understand both the treatment’s safety and any possible early effect in children with CTNNB1 syndrome.