Hyperekplexia in Patients With CTNNB1 Mutation

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

10 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-07-02

Study Completion Date

2022-12-10

Brief Summary

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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.

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Detailed Description

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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).

Conditions

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Hyperekplexia CTNNB1 Gene Mutation

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patient carrying a CTNNB1 syndrome

Recruitment of subjects with CTNNB1 syndrome will be done through health care providers, but also by contacting families through social media and specialized databases.

Questionnaire

Intervention Type OTHER

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

Interventions

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Questionnaire

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

Intervention Type OTHER

Eligibility Criteria

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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