Hyperekplexia in Patients With CTNNB1 Mutation (CTNNB1)

April 24, 2023 updated by: Centre Hospitalier Universitaire de Saint Etienne

Hyperekplexia in Patients With Loss-of-function CTNNB1 Mutation

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Detailed 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).

Study Type

Observational

Enrollment (Actual)

10

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Saint-Étienne, France, 42055
        • CHU Saint-Etienne

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

CTNNB1 subjects

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Prevalence of hyperekplexia in CTNNB1 subjects
Time Frame: on the day of filling in the questionnaire
Number of children with hyperekplexia and CTNNB1 syndrome
on the day of filling in the questionnaire

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Clinical features of hyperekplexia
Time Frame: on the day of filling in the questionnaire
Clinical features (developmental, neurological, and visual disorders) of hyperekplexia in CTNNB1 syndrome
on the day of filling in the questionnaire

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Centre Hospitalier Universitaire de Saint Etienne

Investigators

  • Principal Investigator: Laure MAZZOLA, MD, Centre Hospitalier Universitaire de Saint Etienne

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 2, 2022

Primary Completion (Actual)

December 10, 2022

Study Completion (Actual)

December 10, 2022

Study Registration Dates

First Submitted

December 10, 2021

First Submitted That Met QC Criteria

December 10, 2021

First Posted (Actual)

December 23, 2021

Study Record Updates

Last Update Posted (Actual)

April 25, 2023

Last Update Submitted That Met QC Criteria

April 24, 2023

Last Verified

April 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 21CH164
  • ANSM (Other Identifier: 2025-A01697-42)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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