Clinical trials: CTNNB1 Gene Mutation
16P11.2 Deletion Syndrome, 16p11.2 Duplications
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Simons Searchlight is an observational, online, international research program for families with rare genetic variants that cause neurodevelopmental disorders and may be associated with autism.
- Conditions
- 16P11.2 Deletion Syndrome, 16p11.2 Duplications, 1Q21.1 Deletion, 1Q21.1 Microduplication Syndrome (Disorder)
- Trial name
- NCT01238250
- Where
- 2 sites in United States
- Volunteers
- 100,000 people
- Sponsor
- Simons Searchlight
CTNNB1 Neurodevelopmental Syndrome
CTNNB1 Neurodevelopmental Syndrome - Natural History Study
The aim of the Dragonfly study is to characterise and monitor the neurodevelopment of children and adults diagnosed with CTNNB1 syndrome through an international collaborative effort.
- Trial name
- Dragonfly (NCT07167732)
- Testing
- A General Medical and Neurological Assessment, World Health Organisation (WHO) Motor Milestones, Burke-Fahn-Marsden Dystonia Rating Scale
- Where
- 2 sites in Australia, Slovenia
- Volunteers
- 250 people
- Sponsor
- University Medical Centre Ljubljana
Hyperekplexia, CTNNB1 Gene Mutation
Hyperekplexia in Patients With CTNNB1 Mutation
A few years ago, a new genetic disorder (OMIM # 615075) has been associated with loss-of-function variations in the CTNNB1 gene.
- Trial name
- CTNNB1 (NCT05168969)
- Testing
- Questionnaire
- Where
- France
- Volunteers
- 10 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
CTNNB1 Gene Mutation
Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation
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 name
- Gen-Phe CTNNB1 (NCT04812119)
- Testing
- The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F), The Autism Spectrum Quotient-Children's Version (AQ-Child), The Autism-Spectrum Quotient (AQ)-Adolescent Version (AQ-Adolescent)
- Where
- 3 sites in Australia, Slovenia
- Volunteers
- 100 people
- Sponsor
- University Medical Centre Ljubljana