CTNNB1 Neurodevelopmental Syndrome - Natural History Study

ConditionCTNNB1 Neurodevelopmental Syndrome

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorUniversity Medical Centre Ljubljana

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 standardize care for these patients, as well as facilitate future research and clinical trials design.

Eligibility criteria

Qualifiers

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).

Disqualifiers

Child/adult with CTNNB1 syndrome participating in a clinical trial of a potential treatment for the syndrome.

Trial design

Treatments tested in this trial

A General Medical and Neurological Assessment
World Health Organisation (WHO) Motor Milestones
Burke-Fahn-Marsden Dystonia Rating Scale
Spastic Paraplegia Rating Scale
5. CTNNB1-Related Neurodevelopmental Disorder (NEDSDV) Cardiac Health Questionnaire
10m Walk-Run Test
The Nine Hole Peg Test
The Gross Motor Function Classification System
Bayley Scales of Infant and Toddler Development-4: Fine Motor, Gross Motor, Language, and Cognitive Scales
Wechsler Non-Verbal Scale of Ability
The Vineland Adaptive Behaviour Scales - 3
Aberrant Behaviour Checklist -Community
The Modified Checklist for Autism in Toddlers
The Autism Spectrum Quotient Questionnaire -Children's Version
The Autism-Spectrum Quotient (AQ)-Adolescent Version
Continuous Movement Monitoring (Actimyo/Syde)
Sleep Disturbance Scale for Children
Seizure Diary
30min EEG Recording
PedsQL Family Impact Module
PedsQL Core Module
Blood Sample Collection
Optical Coherence Tomography
Brain MRI