Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation

Completed

• Conditions: CTNNB1 Gene Mutation

• Registration Number: NCT04812119
• Lead Sponsor: University Medical Centre Ljubljana

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 syndrome.

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 discovered. The goal of the study is to reach out to the community and include as many families of patients with CTNNB1 syndrome as possible to create a strong and reliable base of information. the investigators are specifically interested in the correlation between different genotypes and phenotypes and the natural course of the disease. The information gathered with this study will help understand CTNNB1 mutations as well as their effect on patient's overall health and wellbeing. The long-term goal is using this information to help create new treatment options, e.g. gene therapy.

The participants will be guided through a detailed questionnaire about the patient's history, prenatal and delivery risk factors, current medical issues and standardized questionnaires on a variety of subjects that constitute the patient's health and daily function. The investigators wil ask the participants to provide results of genetic testing and other diagnostic measures, thus providing the medical community as well as the families of the patients a reliable overview of the syndrome.

Study Timeline

• Study Start: 2021-03-01
• Study First Submitted: 2021-03-19
• Study First Submitted QC: 2021-03-19
• Study First Posted: 2021-03-23
• Primary Completion: 2022-09-01
• Status Verified: 2022-11
• Study Completion: 2022-11-01
• Last Update Submitted: 2022-11-01
• Last Update Posted: 2022-11-02

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 100

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Baseline comprehensive collection of medical, behavioral, learning, and developmental information of patients who have documented CTNNB1 gene changes.	Baseline data is collected over the course of one month, on average.	Patients with a documented CTNNB1 gene change and/or their caretakers will report detailed medical and family history information and provide the results of genetic and other diagnostic testing by completing our online questionnaire. They will be guided through the questionnaire by the help of a medical doctor via an electronic meeting (Zoom) by one of our researchers. Online research surveys will be used to collect information about the patient's genotype and phenotype, with the goal of better understanding the diversity of CTNNB1 syndrome and thus improving clinical care and treatment for these patients.

Trial Locations

Locations (3)

The University of Sydney; 🇦🇺 Sydney, Australia

Children's Medical Research Institute; 🇦🇺 Westmead, Australia

University Medical Centre Ljubljana; 🇸🇮 Ljubljana, Slovenia