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The Dragonfly study team at Vall d'Hebron
Over the course of one week, it will host in-person assessments for 35 families to better understand the progression of the disease and contribute to the development of new therapies.
CTNNB1 syndrome is a genetic neurodevelopmental disorder that causes intellectual disability, psychomotor and speech delay, and vision problems. With the aim of characterizing the disease and understanding its progression, the Dragonfly study, in which Vall d’Hebron participates, was launched.
Dragonfly is a natural history study of CTNNB1 syndrome designed to generate knowledge and identify new therapies for the disease through clinical assessments and long-term follow-up of individuals diagnosed with the syndrome. This initiative, promoted by the CTNNB1 Spanish Association and the CTNNB1 Foundation, began in 2024. This year, the assessments are taking place in Barcelona from 15 to 19 June, coinciding with the International CTNNB1 Syndrome Conference.
Vall d’Hebron has actively participated in the two previous editions of the study through its collaboration in the clinical assessments conducted in Slovenia in 2024 and in Bilbao in 2025, where approximately 80 to 100 patients were evaluated. On both occasions, professionals from our institution travelled to carry out the in-person assessments of participants.
In 2026, Vall d’Hebron’s involvement is even greater, as the hospital is hosting and conducting the clinical assessments of all Spanish-speaking patients included in the study. Specifically, 35 patients from Spain, Mexico, Chile, Peru and other Spanish-speaking countries will be evaluated. The assessments include pediatric and pediatric neurology evaluations, dysmorphology assessment and neuropsychological evaluation.
This study is particularly relevant at the present time, as a gene therapy targeting CTNNB1 syndrome has recently been developed. To date, two patients have already received this treatment in Slovenia within the framework of a clinical trial, opening up new therapeutic prospects for people affected by this rare disease.
The study at Vall d’Hebron is coordinated by Dr Amaia Lasa Aranzasti, a member of the Clinical and Molecular Genetics Department at Vall d’Hebron University Hospital and of the Genetic Medicine Research Group at VHIR. The study also involves teams from Vall d’Hebron’s Pediatric Neurology Department and the Therapies and Innovation in Pediatric Neurology and Other Rare Diseases Research Group, led by Dr David Gómez, as well as a team at the Psychiatry Department and the Psychiatry, Mental Health and Addictions Research Group led by Sara Fernández.
The Dragonfly study assessments coincide with the International CTNNB1 Syndrome Conference, taking place in Barcelona on 18 and 19 June.
Representing the Campus, Dr Amaia Lasa Aranzasti will deliver a presentation on the genetic causes of cerebral palsy and autism, and on the role of CTNNB1 in neurodevelopmental syndromes.
Psychiatrics, General Hospital
Paediatric Neurology, Children's Hospital and Woman's Hospital
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