Hyperekplexia in Patients With CTNNB1 Mutation

CTNNB1 Gene Mutation Clinical Trial

— CTNNB1  

Official title:

Hyperekplexia in Patients With Loss-of-function CTNNB1 Mutation

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05168969
• Other study ID #: 21CH164
• Secondary ID: ANSM
• Status: Completed
• Start date: July 2, 2022
• Est. completion date: December 10, 2022

Study information

• Verified date: April 2023
• Source: Centre Hospitalier Universitaire de Saint Etienne
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

A few years ago, a new genetic disorder (OMIM # 615075) has been associated with loss-of-function variations in the CTNNB1 gene. The clinical features include a delayed psychomotor development usually leading to severe intellectual disability with or without autistic spectrum disorders, progressive spastic diplegia, and various visual defects. Among over 30 cases described worldwide, 2 were reported with an exaggerated startle response to sudden stimulus corresponding to a very rare neurological phenomenon called hyperekplexia. The investigators also have a 3rd patient carrying a CTNNB1 syndrome associated with hyperekplexia.

Description:

Hyperekplexia can impair daily life because the affected person will fall unexpectedly and stiffly, causing repeated head- or body- wounds. It may be treated empirically by various drugs. Hyperekplexia has so far not been associated with CTNNB1 variations.

In this study, we aim to describe the prevalence and clinical characteristics of hyperekplexia in CTNNB1 syndrome carriers, in order to improve diagnosis and thus treatment.

The investigators will recruit CTNNB1 subjects through health care providers and also by contacting the families through dedicated social media and databases. The families and health care providers will be invited to fill in a questionnaire related to hyperekplexia (clinical, pharmacological, and genetic data).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 10
• Est. completion date: December 10, 2022
• Est. primary completion date: December 10, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• Patient carrying a CTNNB1 syndrome showing an exaggerated startle response

• child whose parents have signed a consent form to participate in the study

Exclusion Criteria:

• Absence of molecular diagnosis

• Refusal to participate

Related Conditions & MeSH terms

• CTNNB1 Gene Mutation
• Hyperekplexia

Intervention

Other:
• Questionnaire
The families and health care providers will be invited to fill in a questionnaire related to hyperekplexia (clinical, pharmacological, and genetic data).

Locations

Country	Name	City	State
France	Chu Saint-Etienne	Saint-Étienne

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire de Saint Etienne

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Prevalence of hyperekplexia in CTNNB1 subjects	Number of children with hyperekplexia and CTNNB1 syndrome	on the day of filling in the questionnaire
Secondary	Clinical features of hyperekplexia	Clinical features (developmental, neurological, and visual disorders) of hyperekplexia in CTNNB1 syndrome	on the day of filling in the questionnaire