CTNNB1 Neurodevelopmental Syndrome - Natural History Study
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
| Condition(s) | CTNNB1 Neurodevelopmental Syndrome |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| 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. |
| Who can participate | 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. |
| Sex | All |
| Lead sponsor | University Medical Centre Ljubljana |
| Locations | Sydney, Australia; Ljubljana, Slovenia |
| Start date | 2024-06-14 |
| NCT ID | NCT07167732 |
| Official listing | https://clinicaltrials.gov/study/NCT07167732 |