CTNNB1 Neurodevelopmental Syndrome - Natural History Study

Recruiting Observational Study
CTNNB1 Neurodevelopmental Syndrome
No Placebo Group Every participant receives an active treatment — no one gets a placebo. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Sex
Any
Study type
Observational
Participants needed
250 (estimated)
Sponsor
University Medical Centre Ljubljana · Other
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About This Trial
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 standar…
Trial Locations
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Eligibility 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 c…
Contacts

Damjan Osredkar, MD, PhD

0038615229273

damjan.osredkar@kclj.si

CONTACT