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OpenTrials
Completed

NCT Number: NCT05168969

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. 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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Key information

Conditions

Hyperekplexia CTNNB1 Gene Mutation Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Intellectual Disability Mental Disorders Nervous System Diseases Neurobehavioral Manifestations Neurodevelopmental Disorders Neurologic Manifestations Pathological Conditions, Signs and Symptoms Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

Chu Saint-Etienne

Saint-Etienne, 42055, France

About this study

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).

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Questionnaire

Other

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

Primary outcomes

  1. Prevalence of hyperekplexia in CTNNB1 subjects

    Time frame: on the day of filling in the questionnaire

    Number of children with hyperekplexia and CTNNB1 syndrome

Secondary outcomes

  1. 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

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire de Saint Etienne

Other

Registry information

Official study title

Hyperekplexia in Patients With Loss-of-function CTNNB1 Mutation

Acronym: CTNNB1

Important dates

Study start
2022
Primary completion
2022
Study completion
2022
First posted
Dec 23, 2021
Registry last updated
Apr 25, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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