Dragonfly Natural History Study
What is the Dragonfly Natural history study?
This is an international, prospective, longitudinal, observational study of the natural course of disease in individuals with CTNNB1 neurodevelopmental syndrome. This study is being conducted across several countries, with ongoing participation in various European countries, the USA, Canada and Australia. The global reach of the study enables us to gather diverse data and develop a comprehensive understanding of CTNNB1 syndrome across different populations and healthcare systems.
The aim of this study is to gain a comprehensive understanding of the mental, physical and social development of children and adults with CTNNB1 syndrome and how their symptoms and abilities change over time. The study will also provide a baseline against which future studies can compare the development of children treated with disease-modifying drugs.
If your child has been diagnosed with CTNNB1 syndrome, your participation in this study would provide valuable insights into the symptoms, progression, and overall impact of the condition.
Read more: https://clinicaltrials.gov/study/NCT07167732?cond=ctnnb1%20syndrome&rank=1
How to join?
This year’s round of clinical examinations has concluded. However, if you are interested in enrolling your child in the study, you can contact nhs@ctnnb1-foundation.org to express your interest. You will be added to our list of potential participants and notified when registration for clinical examinations will open.
Before officially enrolling, you will receive a Participant Information Sheet with full details about the study, along with a Caregiver Form to complete. You will also be asked to sign an Informed Consent Form to confirm that you understand the study and agree to take part.
Registrations for next year are expected to open in January/February 2026, with the main examinations scheduled for summer 2026.
Upcoming dates and locations of clinical examinations:
- Ljubljana, Slovenia: TBD, expected in April-May 2026
- Barcelona, Spain (Hotel SB Diagonal Zero Barcelona): June 16-19, 2026
- Quebec, Canada (CHU de Québec – Université Laval, CHUL site): TBD
- Sydney, Australia (Sydney Children’s Hospital Network): TBD
- Boston, Massachusetts, USA: TBD
FAQ
We’re looking for individuals of any age who have a confirmed diagnosis of CTNNB1 syndrome.
Annual clinical examinations consist of:
- A medical examination – to track general health and neurodevelopment
- A psychological assessment – to understand behaviour, learning, communication, and emotional well-being.
- A physiotherapy examination – to check movement development
In addition, we encourage parents and caregivers to arrange for their child to have an MRI, EEG, eye exam, and blood test at least once during the study, or to provide recent results if these exams have already been completed.
- Medical examination: usually lasts about 1–1.5 hours
- Psychological assessment: can take up to 3 hours
- Physiotherapy examination: takes around 30 minutes
These times are approximate and may vary depending on your child’s focus, energy, and willingness to participate. Because the assessments (particularly the psychological assessments) can be very tiring, we recommend spreading them over two days. Families should plan to spend about two full days at the testing site in total.
The Dragonfly Study is an ongoing longitudinal project, designed to follow participants over several years. It began in 2024 and will conclude in 2029. Families can join at any point during this period, and participants are encouraged to remain in the study until its conclusion to help gather the most accurate information on the natural progression of CTNNB1 syndrome.
No, participation in this study is completely free. However, since the main examinations are held each year in different parts of Europe, families who choose to take part are responsible for covering their own travel and accommodation costs.
Clinical examinations are usually held alongside the International CTNNB1 Syndrome Conference at different locations across Europe. In past years, they have taken place in Madrid, Ljubljana, and Bilbao.
To make participation accessible for more families worldwide, we also organize examinations outside of Europe, including in the USA, Canada, and Australia.