CompletedNot Applicable

Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation

Australia, Slovenia100 participantsStarted 2021-03-01

Plain-language 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 syndrome.

Who can participate

SexALL

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Inclusion Criteria: * 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 Criteria: * Patients who do not have a diagnosed mutation in the CTTNB1 gene. * Patients whose caregivers have not signed the Informed consent form.

What they're measuring

Baseline comprehensive collection of medical, behavioral, learning, and developmental information of patients who have documented CTNNB1 gene changes.

Timeframe: Baseline data is collected over the course of one month, on average.

Trial details

NCT IDNCT04812119

SponsorUniversity Medical Centre Ljubljana

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2022-09-01

View on ClinicalTrials.gov More CTNNB1 Gene Mutation trials