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Hyperekplexia in Patients With CTNNB1 Mutation

NCT05168969 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 10

Last updated 2023-04-25

No results posted yet for this study

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

Interventions

OTHER

Questionnaire

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

Sponsors & Collaborators

  • Centre Hospitalier Universitaire de Saint Etienne

    lead OTHER

Principal Investigators

  • Laure MAZZOLA, MD · Centre Hospitalier Universitaire de Saint Etienne

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-07-02
Primary Completion
2022-12-10
Completion
2022-12-10

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05168969 on ClinicalTrials.gov