We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 2 of 13 for:    ctnnb1

Hyperekplexia in Patients With CTNNB1 Mutation (CTNNB1)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05168969
Recruitment Status : Not yet recruiting
First Posted : December 23, 2021
Last Update Posted : February 14, 2022
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire de Saint Etienne

Tracking Information
First Submitted Date December 10, 2021
First Posted Date December 23, 2021
Last Update Posted Date February 14, 2022
Estimated Study Start Date March 2022
Estimated Primary Completion Date December 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: December 10, 2021)
Prevalence of hyperekplexia in CTNNB1 subjects [ Time Frame: on the day of filling in the questionnaire ]
Number of children with hyperekplexia and CTNNB1 syndrome
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures
 (submitted: December 10, 2021)
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
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Hyperekplexia in Patients With CTNNB1 Mutation
Official Title Hyperekplexia in Patients With Loss-of-function CTNNB1 Mutation
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.
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
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population CTNNB1 subjects
Condition
  • Hyperekplexia
  • CTNNB1 Gene Mutation
Intervention Other: Questionnaire
The families and health care providers will be invited to fill in a questionnaire related to hyperekplexia (clinical, pharmacological, and genetic data).
Study Groups/Cohorts 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.
Intervention: Other: Questionnaire
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Not yet recruiting
Estimated Enrollment
 (submitted: December 10, 2021)
10
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2022
Estimated Primary Completion Date December 2022   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers No
Contacts
Contact: Laure MAZZOLA, MD (0)477828356 ext +33 laure.mazzola@chu-st-etienne.fr
Contact: Francis RAMON, MD (0)477828798 ext +33 Francis.Ramond@chu-st-etienne.fr
Listed Location Countries Not Provided
Removed Location Countries  
 
Administrative Information
NCT Number NCT05168969
Other Study ID Numbers 21CH164
ANSM ( Other Identifier: 2021-A02047-34 )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement
Plan to Share IPD: No
Current Responsible Party Centre Hospitalier Universitaire de Saint Etienne
Original Responsible Party Same as current
Current Study Sponsor Centre Hospitalier Universitaire de Saint Etienne
Original Study Sponsor Same as current
Collaborators Not Provided
Investigators
Principal Investigator: Laure MAZZOLA, MD Centre Hospitalier Universitaire de Saint Etienne
PRS Account Centre Hospitalier Universitaire de Saint Etienne
Verification Date February 2021