CTNNB1 Neurodevelopmental Syndrome - Natural History Study

Recruiting

• Conditions: CTNNB1 Neurodevelopmental Syndrome

• Registration Number: NCT07167732
• Lead Sponsor: University Medical Centre Ljubljana

Brief Summary

The aim of the Dragonfly study is to characterise and monitor the neurodevelopment of children and adults diagnosed with CTNNB1 syndrome through an international collaborative effort. Gaining comprehensive understanding of the mental, physical and social development of people with CTNNB1 neurodevelopmental syndrome and how their symptoms and abilities change over time will help improve and standardize care for these patients, as well as facilitate future research and clinical trials design.

Detailed Description

CTNNB1 syndrome is a rare debilitating neurodevelopmental disorder caused by mutations in the CTNNB1 gene, which is characterised by developmental delay and intellectual disability. Due to its relatively recent discovery, very little is known about the natural history of the condition. The aim of the Dragonfly study is to characterise and monitor the neurodevelopment of children and adults diagnosed with CTNNB1 syndrome through an international collaborative effort. This study is being conducted across several countries, including Slovenia, Spain, Brazil, the USA, and Australia.

In this natural history study, tinvestigators aim to recruit 150 children or adults of any age and phenotype with a confirmed genetic diagnosis of CTNNB1 syndrome, and their primary carers. Investigators will invite the participant and their carers to attend an annual study visit over a period of 5 years, during which investigators will collect retrospective and prospective clinical data. This will include a clinical neurological examination and assessments of motor and cognitive function, communication, behaviour, vision, sleep, assessment of gait using actimetry, and recordings of brain activity using electroencephalography (EEG). Investigators will also assess results of retinal assessment using Optical Coherence Tomography, and structural brain assessments using magnetic resonance imaging (MRI) - these diagnostic procedures will be performed in the participant's home county and not on site. Blood tests will be performed to reconfirm the underlying mutations in the CTNNB1 gene and investigate biomarkers of the condition. Carers will also be invited to complete questionnaires exploring their child's/dependent's abilities and the impact of the condition on their family's quality of life.

There is currently no curative treatment available for CTNNB1 syndrome. However, pre-clinical studies have been successfully completed with promising results and genetic therapies are currently in development. A comprehensive understanding of the natural progression of the condition is essential prior to commencing clinical trials of potential treatments. By improving our understanding of CTNNB1 syndrome, this study aims to lay the foundation for future clinical trials and the development of targeted treatments.

Study Timeline

• Study Start: 2024-06-14
• Status Verified: 2025-09
• Study First Submitted: 2025-09-03
• Study First Submitted QC: 2025-09-03
• Study First Posted: 2025-09-11
• Last Update Submitted: 2025-09-16
• Last Update Posted: 2025-09-22
• Primary Completion: 2029-06
• Study Completion: 2030-01-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 250

Inclusion Criteria

• Clinically and genetically confirmed diagnosis of CTNNB1 syndrome.
• Age 0-99 years.
• Written informed consent/online consent to participate in study from a primary carer (parent or legal guardian).

Exclusion Criteria

• Child/adult with CTNNB1 syndrome participating in a clinical trial of a potential treatment for the syndrome.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Collection of relevant retrospective and prospective clinical data in patients with CTNNB1 syndrome via physical assessments, scales, and questionnaires.	5 years	The aim of the Dragonfly study is to characterise and monitor the neurodevelopment of children and adults diagnosed with CTNNB1 syndrome through an international collaborative effort. Gaining comprehensive understanding of the mental, physical and social development of people with CTNNB1 neurodevelopmental syndrome and how their symptoms and abilities change over time will help improve and standardize care for these patients, as well as facilitate future research and clinical trials design.

Trial Locations

Locations (2)

Sydney Children's Hospital; 🇦🇺 Sydney, Australia

University Medical Centre Ljubljana; 🇸🇮 Ljubljana, Slovenia