HyperekplexiaCTNNB1NCT05168969
Hyperekplexia in Patients With CTNNB1 Mutation
An observational study of Hyperekplexia and CTNNB1 Gene Mutation, run by Centre Hospitalier Universitaire de Saint Etienne at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hyperekplexia, CTNNB1 Gene Mutation
- What is being tested?
- Questionnaire
- How many people
- 10 participants
- Where
- 1 siteFrance
- Study dates
- 2 Jul 2022to 10 Dec 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: CTNNB1 subjects
Who may be able to join
- Patient carrying a CTNNB1 syndrome showing an exaggerated startle response
- child whose parents have signed a consent form to participate in the study
Who cannot join
- Absence of molecular diagnosis
- Refusal to participate
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
Read the 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).
- Conditions
- Hyperekplexia, CTNNB1 Gene Mutation
- Being tested
- Questionnaire
- Keywords
- Hyperekplexia, CTNNB1, genetic disorder, psychomotor development, intellectual disability, neurological phenomenon, various visual defects, progressive spastic diplegia
- Medical subject headings
- Hyperekplexia, Genetic Diseases, Inborn, Intellectual Disability
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
QuestionnaireOther
The families and health care providers will be invited to fill in a questionnaire related to hyperekplexia (clinical, pharmacological, and genetic data).
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: Questionnaire |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of hyperekplexia in CTNNB1 subjects
Number of children with hyperekplexia and CTNNB1 syndrome
Measured: on the day of filling in the questionnaire
Secondary outcomes (1)
Clinical features of hyperekplexia
Clinical features (developmental, neurological, and visual disorders) of hyperekplexia in CTNNB1 syndrome
Measured: on the day of filling in the questionnaire
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Dec 2021
- Study start2 Jul 2022
- Primary completion10 Dec 2022
- Study completion10 Dec 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HyperekplexiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Saint Etienne
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Laure MAZZOLA, MD, Principal investigator, Centre Hospitalier Universitaire de Saint Etienne
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05168969
- Sponsor's protocol ID
- 21CH164
- Other IDs
- ANSM
- Acronym
- CTNNB1
- Status last verified
- Apr 2023
- First submitted
- 10 Dec 2021
- Last updated
- 25 Apr 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 25 Apr 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Hyperekplexia in Patients With Loss-of-function CTNNB1 Mutation
- ClinicalTrials.gov ID
- NCT05168969
- Acronym / sponsor ID
- CTNNB1 / 21CH164
- Conditions
- Hyperekplexia, CTNNB1 Gene Mutation
- Keywords
- Hyperekplexia, CTNNB1, genetic disorder, psychomotor development, intellectual disability, neurological phenomenon, various visual defects, progressive spastic diplegia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 10 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de Saint EtienneUniversity, hospital or other
- Study start
- 2 Jul 2022 (actual)
- Primary completion
- 10 Dec 2022 (actual)
- Study completion
- 10 Dec 2022 (actual)
- First posted
- 23 Dec 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patient carrying a CTNNB1 syndrome | – | Other: QuestionnaireRecruitment of subjects with CTNNB1 syndrome will be done through health care providers, but also by contacting families through social media and specialized databases. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- CTNNB1 subjects
Key inclusion criteria (2 listed)
- Patient carrying a CTNNB1 syndrome showing an exaggerated startle response
- child whose parents have signed a consent form to participate in the study
Key exclusion criteria (2 listed)
- Absence of molecular diagnosis
- Refusal to participate
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| QuestionnaireThe families and health care providers will be invited to fill in a questionnaire related to hyperekplexia (clinical, pharmacological, and genetic data). | Other | Patient carrying a CTNNB1 syndrome |
Primary outcome
Prevalence of hyperekplexia in CTNNB1 subjects
Time frame: on the day of filling in the questionnaire
Number of children with hyperekplexia and CTNNB1 syndrome
1 secondary outcome
Clinical features of hyperekplexia
Time frame: on the day of filling in the questionnaire
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Apr 2023.
- Individual participant dataSharing planned: No
Related trials for Hyperekplexia
RecruitingObservational study
Hyperekplexia : Adaptative Skills and Neurodevelopmental Trajectory
Hyperekplexia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laure MAZZOLA, MD principal investigator
Centre Hospitalier Universitaire de Saint Etienne
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hyperekplexia and CTNNB1 Gene Mutation, run by Centre Hospitalier Universitaire de Saint Etienne at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 25 Apr 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of hyperekplexia in CTNNB1 subjects (time frame: on the day of filling in the questionnaire). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Apr 2023; AzTrials last refreshed its copy on 29 Oct 2026.