Tracking development in people with CTNNB1 neurodevelopmental syndrome
Dragonfly Study: An International, Prospective, Longitudinal, Observational Natural History Study of Children and Adults Living With CTNNB1 Neurodevelopmental Syndrome
University Medical Centre Ljubljana · NCT07167732
The team will see how CTNNB1 gene changes affect development over time in children and adults with CTNNB1 neurodevelopmental syndrome.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 250 (estimated) |
| Sex | All |
| Sponsor | University Medical Centre Ljubljana (other) |
| Locations | 2 sites (Sydney and 1 other locations) |
| Trial ID | NCT07167732 on ClinicalTrials.gov |
What this trial studies
This international, longitudinal natural history project will enroll up to 150 children and adults with genetically confirmed CTNNB1 neurodevelopmental syndrome and follow them yearly for up to five years. At annual visits investigators will collect retrospective and prospective medical history and perform neurological exams and standardized assessments of motor, cognitive, communication, behavior, vision, and sleep. They will also record gait with actimetry, capture brain activity with EEG, and compile retinal (OCT) and structural brain imaging (MRI) performed locally in the participant's home country. Carers will provide parallel information about daily function and the data will be used to map symptom trajectories and help standardize care and design future clinical trials.
Who should consider this trial
Good fit: People of any age (0–99) with a confirmed CTNNB1 genetic diagnosis and a primary carer who can provide written or online consent are ideal candidates, provided they are not enrolled in a treatment clinical trial.
Not a fit: Patients without a confirmed genetic diagnosis or those currently taking part in an interventional treatment trial are unlikely to benefit from this observational project.
Why it matters
Potential benefit: If successful, the project could clarify how symptoms change over time, helping doctors make clearer care plans and enabling better-designed clinical trials for CTNNB1 patients.
How similar studies have performed: Natural history studies for other rare genetic neurodevelopmental disorders have successfully informed care and trial design, but CTNNB1-specific longitudinal data are limited and this effort is largely novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Sydney and 1 other locations
- Sydney Children's Hospital — Sydney, Australia (NOT_YET_RECRUITING)
- University Medical Centre Ljubljana — Ljubljana, Slovenia (RECRUITING)
Study contacts
- Study coordinator: Damjan Osredkar, MD, PhD
- Email: damjan.osredkar@kclj.si
- Phone: 0038615229273
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: CTNNB1 Neurodevelopmental Syndrome, CTNNB1 neurodevelopmental syndrome, Natural History Study, CTNNB1 gene mutation, Autism Spectrum Disorder, Beta-catenin, Developmental Delay