Hyperekplexia in Patients With CTNNB1 Mutation

NCT05168969 | Completed

• 2 other identifiers: 21CH164ANSM
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Hyperekplexia; CTNNB1 Gene Mutation

Keywords

Hyperekplexia; CTNNB1; genetic disorder; psychomotor development; intellectual disability; neurological phenomenon; various visual defects; progressive spastic diplegia

Outcome Measures

Primary Outcomes (1)

• Prevalence of hyperekplexia in CTNNB1 subjects

  Number of children with hyperekplexia and CTNNB1 syndrome

  on the day of filling in the questionnaire

Secondary Outcomes (1)

• Clinical features of hyperekplexia

  on the day of filling in the questionnaire

Study Arms (1)

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

Interventions

Questionnaire OTHER

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

Patient carrying a CTNNB1 syndrome

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

CTNNB1 subjects

You may qualify if:

• Patient carrying a CTNNB1 syndrome showing an exaggerated startle response
• child whose parents have signed a consent form to participate in the study

You may not qualify if:

• Absence of molecular diagnosis
• Refusal to participate

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Saint Etienne: lead

Study Sites (1)

Chu Saint-Etienne

Saint-Etienne, 42055, France

Location

MeSH Terms

Conditions

Hyperekplexia; Genetic Diseases, Inborn; Intellectual Disability

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Central Nervous System Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neurobehavioral Manifestations; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurodevelopmental Disorders; Mental Disorders

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Laure MAZZOLA, MD

  Centre Hospitalier Universitaire de Saint Etienne

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 10, 2021
• First Posted: December 23, 2021
• Study Start: July 2, 2022
• Primary Completion: December 10, 2022
• Study Completion: December 10, 2022
• Last Updated: April 25, 2023

Record last verified: 2023-04

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)