Tracking development in people with CTNNB1 neurodevelopmental syndrome
Official title: Dragonfly Study: An International, Prospective, Longitudinal, Observational Natural History Study of Children and Adults Living With CTNNB1 Neurodevelopmental Syndrome
Run by University Medical Centre Ljubljana · NCT07167732 · Data updated 2026-11-12
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 |
|---|---|
| Sex | All |
| Enrollment | 250 (estimated) |
| Sponsor | University Medical Centre Ljubljana Academic / other |
| Locations | 2 sites (Sydney and 1 other locations) |
| Status | Recruiting |
| Started | June 14, 2024 |
| Main results expected | June 2029 |
| Study ends | January 2030 |
| Registry record updated | September 22, 2025 |
| Trial ID | NCT07167732 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
-
University Medical Centre Ljubljana
Ljubljana, Slovenia Recruiting -
Sydney Children's Hospital
Sydney, Australia Not yet recruiting
Study contacts
- Study coordinator: Damjan Osredkar, MD, PhD
- Email: damjan.osredkar@kclj.si
- Phone: 0038615229273
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.