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ADENO-ASSOCIATED VIRAL VECTOR SEROTYPE 9 CONTAINING THE HUMAN CTNNB1 GENE

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.

Table of contents

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.[1] The brief summary says the study is testing URBAGEN given by bilateral intracerebroventricular injection to assess safety and tolerability.[1]

Who can participate

The trial is for pediatric patients, which means children.[1] The condition required for enrollment is CTNNB1 syndrome.[1] No other eligibility details are provided in the trial data.

What is being measured

The main outcomes focus on safety checks.[1] 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.[1]

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.[1] 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.[1]

Trial design and phase

This study is a Phase 1/2 trial.[1] Phase 1/2 trials are early studies that usually begin by checking safety and then collect early information about possible benefit.[1] The trial is also described as open-label, meaning the treatment is not hidden from the study team and participants.[1]

The intervention listed is a single intracerebroventricular administration, which means the treatment is given once into the brain’s fluid spaces called ventricles.[1]

Study status and size

The trial status is Authorised.[1] The planned enrollment is 12 participants, so this is a small early-stage study.[1]

What these trial terms mean for patients

Safety means the researchers are checking for harm or side effects during the study.[1] Tolerability means how well children can handle the treatment overall.[1] Efficacy means whether the treatment shows signs of helping the condition, even if that benefit is still early and not yet proven.[1]

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.[1] These measurements help researchers understand both the treatment’s safety and any possible early effect in children with CTNNB1 syndrome.[1]

Trial ID Phase Condition studied Status Enrollment
2025-522719-40-00 Phase 1/2 CTNNB1 syndrome Authorised 12

FAQ

  • What condition is being studied? The trial is studying CTNNB1 syndrome. This is the only condition listed in the trial data.
  • Who can take part in the trial? The study is for pediatric patients, meaning children. They must have a diagnosis of CTNNB1 syndrome.
  • What is the main purpose of the trial? The main purpose is to assess safety and tolerability. The trial also looks for early signs of efficacy, which means whether the treatment may help.
  • What phase is the trial? This is a Phase 1/2 trial. Phase 1/2 studies usually look at safety first and also collect early information about how well the treatment may work.
  • What kind of treatment is being tested? The trial is testing a single intracerebroventricular administration of URBAGEN. Intracerebroventricular means it is given into the fluid spaces in the brain.

Ongoing Clinical Trials on ADENO-ASSOCIATED VIRAL VECTOR SEROTYPE 9 CONTAINING THE HUMAN CTNNB1 GENE

  • A Study of Gene Replacement Therapy for Children with CTNNB1 Syndrome Using Adeno-Associated Viral Vector Serotype 9 Containing the Human CTNNB1 Gene

    Recruiting

    2 1 1
    Investigated diseases:
    Investigated drugs:
    Slovenia

Glossary

  • CTNNB1 syndrome: A rare condition studied in this trial. The trial data says children with this diagnosis may take part.
  • Pediatric patients: Children or young patients. This trial is designed for pediatric patients only.
  • Phase 1/2: An early clinical trial stage. It usually checks safety first and also looks for early signs that the treatment may help.
  • Open-label: A study design where the treatment is known to the researchers and usually the participants as well.
  • Interventional study: A study where researchers give a treatment and then measure what happens.
  • Intracerebroventricular administration: Giving treatment into the brain’s fluid spaces called ventricles.
  • Safety: How well a treatment is tolerated and whether it causes harmful effects.
  • Tolerability: How manageable the treatment is for patients, including side effects and overall burden.
  • Adverse event: Any unwanted medical problem that happens during a study.
  • Electroencephalogram (EEG): A test that records brain activity.
  • Electrocardiogram (ECG): A test that checks the heart’s electrical activity.
  • AAV9 antibodies: Proteins in the blood that may show the body has reacted to AAV9.

References

  1. https://clinicaltrials.gov/study/2025-522719-40-00