Clinical trial NCT04812119: Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation
Official title: A Neurodevelopmental Data Capture of Patients Diagnosed With CTNNB1 Syndrome With Genotype/Phenotype Gorrelation
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: CTNNB1 Gene Mutation
Keywords: CTNNB1 Gene Mutation
CTNNB1 Syndrome
Beta-catenin
Autism Spectrum Disorder
Developmental delay
Lead sponsor: University Medical Centre Ljubljana
Sponsor class: OTHER
Collaborators: name: University of Ljubljana, Faculty of Medicine
name: National Institute of Chemistry, Ljubljana, Slovenia
name: Children's Medical Research Institute, Westmead, Australia
name: The University of Sydney, Sydney, Australia
First posted: 2021-03-23
Enrollment: 100
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study will enroll and collect data from people who have a diagnosed mutation in the CTNNB1 gene. Participants include people who have a gene change and at least one parent or guardian. Participants can also include multiple people who have a diagnosed CTNNB1 mutation and are within the same family.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: 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.
Secondary outcomes:
Other outcomes:
Locations:
city: Sydney
country: Australia
facility: The University of Sydney
city: Westmead
country: Australia
facility: Children's Medical Research Institute
city: Ljubljana
country: Slovenia
facility: University Medical Centre Ljubljana
Study officials:
References: