Status:
COMPLETED
Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation
Lead Sponsor:
University Medical Centre Ljubljana
Collaborating Sponsors:
University of Ljubljana, Faculty of Medicine
National Institute of Chemistry, Ljubljana, Slovenia
Conditions:
CTNNB1 Gene Mutation
Eligibility:
All Genders
Brief Summary
The aim of this study is to explore and define the correlations between genotype and phenotype in patients with CTNNB1 mutations as well as monitor and survey the natural history of the CTNNB1 syndrom...
Detailed Description
CTNNB1 mutation is linked with autism and other neurodevelopmental disorders. So far, there have been 28 studies published describing 71 patients with this syndrome, which leaves much to be yet discov...
Eligibility Criteria
Inclusion
- Patients with a diagnosed mutation in the CTNNB1 gene.
- Patients whose parents/caregivers were informed about the aims of the study and have signed the Informed consent form.
Exclusion
- Patients who do not have a diagnosed mutation in the CTTNB1 gene.
- Patients whose caregivers have not signed the Informed consent form.
Key Trial Info
Start Date :
March 1 2021
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
November 1 2022
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT04812119
Start Date
March 1 2021
End Date
November 1 2022
Last Update
November 2 2022
Active Locations (3)
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1
The University of Sydney
Sydney, Australia
2
Children's Medical Research Institute
Westmead, Australia
3
University Medical Centre Ljubljana
Ljubljana, Slovenia