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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/NCT04812119




Registration number
NCT04812119
Ethics application status
Date submitted
19/03/2021
Date registered
23/03/2021
Date last updated
2/11/2022

Titles & IDs
Public title
Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation
Scientific title
A Neurodevelopmental Data Capture of Patients Diagnosed With CTNNB1 Syndrome With Genotype/Phenotype Gorrelation
Secondary ID [1] 0 0
0120-80/2021/3
Universal Trial Number (UTN)
Trial acronym
Gen-Phe CTNNB1
Linked study record

Health condition
Health condition(s) or problem(s) studied:
CTNNB1 Gene Mutation 0 0
Condition category
Condition code

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Diagnosis / Prognosis - The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F)
Diagnosis / Prognosis - The Autism Spectrum Quotient-Children's Version (AQ-Child)
Diagnosis / Prognosis - The Autism-Spectrum Quotient (AQ)-Adolescent Version (AQ-Adolescent)
Diagnosis / Prognosis - The Viking's Speech Scale
Diagnosis / Prognosis - The Functional Communication Classification System (FCCS)
Diagnosis / Prognosis - Brief Infant Sleeping Questionnaire (BISQ)
Diagnosis / Prognosis - Pediatric Sleep Questionnaire (PSQ)
Diagnosis / Prognosis - The Eating and Drinking Ability Classification System (EDACS)
Diagnosis / Prognosis - Mini Manual Ability Classification System (Mini-MACS)
Diagnosis / Prognosis - Manual Ability Classification System (MACS)
Diagnosis / Prognosis - The Gross Motor Function Classification System - Expanded and Revised (GMFCS - E&R)
Diagnosis / Prognosis - The Visual Function Classification System (VFCS)
Diagnosis / Prognosis - The Early Childhood Oral Health Impact Scale (ECOHIS)
Diagnosis / Prognosis - The Family Impact Scale (FIS)
Diagnosis / Prognosis - The Achenbach System of Empirically Based Assessment (ASEBA)
Diagnosis / Prognosis - Adaptive Behavior Assessment System Third Edition (ABAS-3)

Patients with the CTNNB1 mutation - Patient with a diagnosed CTNNB1 mutation.


Diagnosis / Prognosis: The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F)
The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F; Robins, Fein, & Barton, 2009) is a 2-stage parent-report screening tool to assess risk for Autism Spectrum Disorder (ASD). It is valid for children 16-30 months old.

Diagnosis / Prognosis: The Autism Spectrum Quotient-Children's Version (AQ-Child)
The Autism Spectrum Quotient-Children's Version (AQ-Child; Auyeung, Baron-Cohen, Wheelwright & Allison, 2008) is a parent-report questionnaire that aims to quantify autistic traits in children 4-11 years old. It contains 50 likert-type items with responses ranging from "definitely agree" to "definitely disagree".

Diagnosis / Prognosis: The Autism-Spectrum Quotient (AQ)-Adolescent Version (AQ-Adolescent)
The Autism Spectrum Quotient-Children's Version (AQ-Child; Auyeung, Baron-Cohen, Wheelwright & Allison, 2008) is a parent-report questionnaire that aims to quantify autistic traits in children 12-15 years old. It contains 50 likert-type items with responses ranging from "definitely agree" to "definitely disagree".

Diagnosis / Prognosis: The Viking's Speech Scale
The Viking Speech Scale (Pennington, Virella, Mjøen, da Graça Andrada, Murray, Colver, … & Andersen, 2013) is used to classify children's speech production, specifically the ease at which children can make themselves understood using different methods of communication. The scale has four levels and is ordinal. The four levels include: (1) speech is not affected by motor disorder (2) speech is imprecise but usually understandable to unfamiliar listeners (3) speech is unclear and not usually understandable to unfamiliar listeners out of context (3) no understandable speech. It is intended for children above the age of 4 years.

Diagnosis / Prognosis: The Functional Communication Classification System (FCCS)
The Functional Communication Classification System (Barty, Caynes & Johnston, 2016) was designed to classify how children with cerebral palsy communicate on a daily basis. The tool focuses on how children typically communicate with familiar and unfamiliar communication partners. There are five classifications a child can be categorized in: (1) effective communicator in most situations (2) effective communicator in most situations, but does need some help (3) an effective communicator in most situations and can communicate small ranges of messages and topics to most familiar people (4) assistance is required in most situations, especially with unfamiliar people and environments. Communicates daily needs and wants to familiar people (5) communicates using undirected movement, vocalisation and/or behaviour, for interpretation by familiar people. The FCCS is valid for use in children up to 13 years.

Diagnosis / Prognosis: Brief Infant Sleeping Questionnaire (BISQ)
The Brief Infant Sleep Questionnaire (BISQ; Sadeh, 2004) is used to assess sleep patterns, parent perception, and sleep-related behaviors in young children (0-36 months). The BISQ has been validated against actigraphy, daily logs, and has high sensitivity in documenting expected developmental trends in sleep.

Diagnosis / Prognosis: Pediatric Sleep Questionnaire (PSQ)
Pediatric Sleep Questionnaire (PSQ; Chervin, Hedger, Dillon, Pituch, 2000) has been designed to screen for sleep problems in children. The scale consists of 22 parent-reported items examining snoring and breathing problems, daytime sleepiness, inattention, hyperactivity, and other signs and symptoms of apnea including obesity and nocturnal enuresis. Those questions specifically relate to sleep-disordered breathing (SDB) in children. PSQ has been validated for children 2-18 years old.

Diagnosis / Prognosis: The Eating and Drinking Ability Classification System (EDACS)
The Eating and Drinking Ability Classification System (EDACS; Sellers, Mandy, Pennington, Hankins, Morris, 2013) has been developed for people with cerebral palsy to describe five distinct levels of ability using the key features of safety and efficiency. The patient can be categorized in: (1) eats and drinks safely and efficiently, (2) eats and drinks safely but with some limitations to efficiency, (3) eats and drinks with some limitations to safety; maybe limitations to efficiency, (4) eats and drinks with significant limitations to safety or (5) unable to eat or drink safely - tube feeding may be considered to provide nutrition. The EDACS is valid for use in children above the age of 36 months.

Diagnosis / Prognosis: Mini Manual Ability Classification System (Mini-MACS)
The Mini Manual Ability Classification System (Mini-MACS; Eliasson, Krumlinde-Sundholm, 2013) describes how children with cerebral palsy use their hands to handle objects in daily activities. MACS describes five levels. The levels are based on the children's self-initiated ability to handle objects and their need for assistance or adaptation to perform manual activities in everyday life. It has been validated for children 1-4 years of age.

Diagnosis / Prognosis: Manual Ability Classification System (MACS)
The Manual Ability Classification System (MACS; Eliasson, Krumlinde Sundholm, Rösblad, Beckung, Arner, Öhrvall, Rosenbaum, 2006) describes how children with cerebral palsy use their hands to handle objects in daily activities. MACS describes five levels. The levels are based on the children's self-initiated ability to handle objects and their need for assistance or adaptation to perform manual activities in everyday life. It has been validated for children 4-18 years.

Diagnosis / Prognosis: The Gross Motor Function Classification System - Expanded and Revised (GMFCS - E&R)
The Gross Motor Function Classification System - Expanded & Revised (GMFCS - E&R; Palisano, Rosenbaum, Bartlett, Livingston, 2007) is a 5-level classification system that describes the gross motor function of children and youth with cerebral palsy on the basis of their self-initiated movement with particular emphasis on sitting, walking, and wheeled mobility. Distinctions between levels are based on functional abilities, the need for assistive technology, including hand-held mobility devices (walkers, crutches, or canes) or wheeled mobility, and to a much lesser extent, quality of movement. The questionnaire is available for four age groups of children and youth: 2 to < 4 years, 4 to < 6 years, 6 to < 12 years, and 12 to 18 years.

Diagnosis / Prognosis: The Visual Function Classification System (VFCS)
The Visual Function Classification System (Baranello et al, 2019) is a valid and reliable 5-level classification system of visual functioning for children with Cerebral Palsy. It describes the use of visual abilities in daily life, focusing on activity and participation.

Diagnosis / Prognosis: The Early Childhood Oral Health Impact Scale (ECOHIS)
The ECOHIS measures the impact of oral problems and/or experience of dental treatment on the quality of life in children under 5 years old and their parents or other family members. It has 13 questions divided into two domains: one related to impact on the child (9 questions), and another to impact on the family (4 questions), measured using the Likert scale. In children with cerebral palsy and/or the ECOHIS has been validated for ages up to 6,5 years, in children with intellectual disability for ages up to 5 years and in children with special need for ages up to 9 years.

Diagnosis / Prognosis: The Family Impact Scale (FIS)
The FIS evaluates the impact of a child's oral condition on family life. It consists of 14 items divided into three subscales: parental/family activity (PA), parental emotions (PE), and family conflict (FC). The financial burden subscale (FB) is the only one that is evaluated separately, since it comprises a single item and addresses economic rather than psychosocial or behavioural impact. It has been validated for children above the age of 12 years.

Diagnosis / Prognosis: The Achenbach System of Empirically Based Assessment (ASEBA)
The Achenbach System of Empirically Based Assessment (ASEBA; Achenbach) is a collection of questionnaires used to assess adaptive and maladaptive behavior and overall functioning in individuals. The system includes report forms for multiple informants - the Child Behavior Checklist (CBCL) is used for caregivers to fill out ratings of their child's behavior, the Youth Self Report Form (YSR) is used for children to rate their own behavior, and the Teacher Report Form (TRF) is used for teachers to rate their pupil's behavior. The ASEBA seeks to capture consistencies or variations in behavior across different situations and with different interaction partners. The ASEBA exists for multiple age groups, including preschool-aged children, school-aged children, adults, and older adults. Scores for individuals in each age group are norm-referenced.

Diagnosis / Prognosis: Adaptive Behavior Assessment System Third Edition (ABAS-3)
The ABAS-3 (Harrison, Oakland, 2015) is a rating scale useful for assessing skills of daily living in individuals with developmental delays, autism spectrum disorder, intellectual disability, learning disabilities, neuropsychological disorders, and sensory or physical impairments. Rating forms are filled out by the parent and a teacher. The ABAS-3 covers three broad domains: conceptual, social, and practical, using 11 skill areas within these domains. Tasks focus on everyday activities required to function, meet environmental demands, care for oneself, and interact with others effectively and independently. On a 4-point response scale, raters indicate whether, and how frequently, the individual performs each activity.
Intervention code [1] 0 0
Diagnosis / Prognosis
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Baseline comprehensive collection of medical, behavioral, learning, and developmental information of patients who have documented CTNNB1 gene changes.
Timepoint [1] 0 0
Baseline data is collected over the course of one month, on average.

Eligibility
Key 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.
Minimum age
No limit
Maximum age
No limit
Sex
Both males and females
Can healthy volunteers participate?
No
Key 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
Purpose
Duration
Cross-sectional
Selection
Timing
Statistical methods / analysis

Recruitment
Recruitment status
Completed
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
1/03/2021
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
Actual
1/11/2022
Sample size
Target
Accrual to date
Final
100
Recruitment in Australia
Recruitment state(s)
Recruitment hospital [1] 0 0
The University of Sydney - Sydney
Recruitment hospital [2] 0 0
Children's Medical Research Institute - Westmead
Recruitment postcode(s) [1] 0 0
- Sydney
Recruitment postcode(s) [2] 0 0
- Westmead
Recruitment outside Australia
Country [1] 0 0
Slovenia
State/province [1] 0 0
Ljubljana

Funding & Sponsors
Primary sponsor type
Other
Name
University Medical Centre Ljubljana
Address
Country
Other collaborator category [1] 0 0
Other
Name [1] 0 0
University of Ljubljana, Faculty of Medicine
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Other
Name [2] 0 0
National Institute of Chemistry, Ljubljana, Slovenia
Address [2] 0 0
Country [2] 0 0
Other collaborator category [3] 0 0
Other
Name [3] 0 0
Children's Medical Research Institute, Westmead, Australia
Address [3] 0 0
Country [3] 0 0
Other collaborator category [4] 0 0
Other
Name [4] 0 0
The University of Sydney, Sydney, Australia
Address [4] 0 0
Country [4] 0 0

Ethics approval
Ethics application status

Summary
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.
Trial website
https://clinicaltrials.gov/ct2/show/NCT04812119
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/ct2/show/NCT04812119