HyperekplexiaStarDevNCT05652101
Hyperekplexia : Adaptative Skills and Neurodevelopmental Trajectory
An observational study of Hyperekplexia, run by Hospices Civils de Lyon at 1 site in France.
Trial summary
Hereditary hyperekplexia is a rare neuronal disorder, caused by genetic defects leading to dysfunction of glycinergic neurotransmission. The clinical presentation is characterized by stiffness and exaggerated startle responses to unexpected stimuli, that appear shortly after birth. Read more about this study
- Who is it for?
- Ages 2 years and older
- Conditions the study is for
- Hyperekplexia
- What is being tested?
- collection of medical data and Vineland Adaptive Behaviour Scales (VABS2) questionnaire
- How many people
- 40 participants
- Where
- 1 siteFrance
- Study dates
- 24 Apr 2023to 1 Jun 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 2 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Population of patients followed in pediatric neurology or neurology, for hereditary hyperekplexia
Who may be able to join
- Clinical diagnostic criteria for hyperekplexia (see Thomas et al. BRAIN, 2013):
- The presence of hypertonia (either hypertonia on examination, axial or segmental, or access of stiffness)
- Exaggerated reflex startles, to auditory, tactile or visual stimuli
- The presence of reflex bursts on percussion of the midline
- Children >2 years and adults
- No opposition of one of the two parents (or legal representative) or of the adult patient
Who cannot join
- The presence of a cause secondary to the hyperekplexia (traumatic, autoimmune, etc.)
- The presence of another cause for a delay in psychomotor development (other neurological pathology, serious head trauma, etc.)
- Pregnant or breastfeeding women
- Person deprived of liberty by judicial or administrative decision
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Hopital Femme Mère Enfant
Bron, 69500
Laurence LION FRANCOIS, MD,PhD, 04 27 85 53 77 ext. +33, laurence.lion-francois@chu-lyon.fr
Diane PINA, 0633493731 ext. +33, diane.pina@chu-lyon.fr
About this study
Official title: Study of Adaptative Skills and Neurodevelopmental Trajectory for Patients With Hyperekplexia (Startle Disease)
Hereditary hyperekplexia is a rare neuronal disorder, caused by genetic defects leading to dysfunction of glycinergic neurotransmission.
The clinical presentation is characterized by stiffness and exaggerated startle responses to unexpected stimuli, that appear shortly after birth.
Read more
The generalised stiffness can lead to apnea and sudden infant death syndrome.
Several genes are known to be associated with hereditary hyperekplexia. The most frequent are Glycine Receptor Alpha 1 (GLRA1), Glycine Receptor Beta (GLRB) and Solute Carrier Family 6 Member 5 (SLC6A5). They encode for the postsynaptic glycine receptor (GLRA1, GLRB) and the presynaptic glycine transport (SLC6A5). Genetic mutations in these genes lead to dysfunction in the glycinergic inhibitory neurotransmission.
The neurodevelopment was initially described as normal, or as delayed due to the motor difficulties. Global development delay and intellectual disability are reported as well, in the most recent studies.
Nevertheless, the degree of severity of the learning difficulties and the adaptive faculties of the patients is not specified.
Similarly, the efficacy of clonazepam in hyperekplexia is well known, but the evolution of dosage over time and the frequency of complete withdrawal have never been studied.
The primary endpoint of this study is to describe adaptive skills using a standardized questionnaire, Vineland Adaptive Behavior Scale (VABS2).
Secondary endpoints are:
- Neurodevelopmental course study
- Description of the evolution of the clinical manifestations over the years
- Evaluation of the efficacity of the treatment CLONAZEPAM, initially and over time, and evolution of the dosage
- Comparison of clinical and therapeutical characteristics according to the genotype
- Conditions
- Hyperekplexia
- Being tested
- collection of medical data, Vineland Adaptive Behaviour Scales (VABS2) questionnaire
- Keywords
- Hyperekplexia, Neurodevelopment trajectory, Adaptative skills
- Medical subject headings
- Hyperekplexia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
collection of medical dataOther
The data collected concerns:
- Sex
- Age
- Socio-professional category of patients or parents / level of education of the parents
- Family history
- Neonatal patient data (pregnancy, childbirth)
- Clinical data (age of onset of symptoms, evolution of these symptoms over the years, psychomotor development, schooling, learning difficulties, rehabilitation)
- Therapeutic data (treatments tried, their dosage and effectiveness, changes in dosage over the years)
- Paraclinical examinations (Magnetic Resonance Imaging (MRI), scanner, Electroencephalography (EEG))
- Genetic data if available
Vineland Adaptive Behaviour Scales (VABS2) questionnaireOther
This is a standardized semi structured interview that measures adaptative skills in 4 areas, in the fields of communication, socialization, daily living, and motricity (for children under 7 years). It can be used for children and adults.
Rating: 2 = yes, usually, 1 = sometimes or partly, 0 = no, never, N = not applicable (when a child is not yet of sufficient age, for example), NS = don't know. The results by domain and by sub-domain are given in raw scores which are then transformed into equivalent ages using a grid provided for this purpose.
| Study group | Role | What they receive |
|---|---|---|
| Patients suffering from hereditary hyperekplexia, above 2 years of age | 40 patients suffering from hereditary hyperekplexia will be included. The investigators study patients suffering from hereditary hyperekplexia. The diagnostic is clinical, based on the following symptoms, appearing shortly after birth: stiffness, exaggerating response startles to unexpected stimuli, generalized stiffness after the startles.
Children above 2 years old and adults are included, so the neurodevelopment can be evaluated. Receives: Other: collection of medical data; Other: Vineland Adaptive Behaviour Scales (VABS2) questionnaire |
What is being measured
The primary outcome is the main question the study is designed to answer.
VABS2 total score and specific scores (socialization, communication, daily living and motricity)
The VABS2 measures adaptative scores in the fields of :
- Communication (receptive, expressive, written)
- Daily Living Skills (personal, domestic and in community)
- Socialisation (interpersonal relationships, play and leisure time, coping skills)
- Motor Skills (gross and fine motor) for children under 7 years.
The domains are made up of subdomains in which the scores are added to form the domain composite scores. The four domain composite scores then combine to form the adaptive behaviour composite for those individuals aged birth to 6 years 11 months. Three domain composite scores (communication, daily living skills and socialization) combine to form the adaptive behaviour composite for those aged 7 through 90.
The results are expressed with standard scores, percentile ranks, adaptive levels and age equivalents.
Measured: maximum 2 months after the inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Dec 2022
- Study start24 Apr 2023
- Primary completion1 Jun 2027 (estimated)
- Study completion1 Jun 2027 (estimated)
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.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- 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
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05652101
- Sponsor's protocol ID
- 69HCL22_0568
- Other IDs
- 2022-A02107-36
- Acronym
- StarDev
- Status last verified
- Aug 2025
- First submitted
- 7 Dec 2022
- Last updated
- 11 Aug 2025
- 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 11 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of Adaptative Skills and Neurodevelopmental Trajectory for Patients With Hyperekplexia (Startle Disease)
- ClinicalTrials.gov ID
- NCT05652101
- Acronym / sponsor ID
- StarDev / 69HCL22_0568
- Conditions
- Hyperekplexia
- Keywords
- Hyperekplexia, Neurodevelopment trajectory, Adaptative skills
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 24 Apr 2023 (actual)
- Primary completion
- 1 Jun 2027 (estimated)
- Study completion
- 1 Jun 2027 (estimated)
- First posted
- 15 Dec 2022 (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.
Hereditary hyperekplexia is a rare neuronal disorder, caused by genetic defects leading to dysfunction of glycinergic neurotransmission.
The clinical presentation is characterized by stiffness and exaggerated startle responses to unexpected stimuli, that appear shortly after birth.
The generalised stiffness can lead to apnea and sudden infant death syndrome.
Several genes are known to be associated with hereditary hyperekplexia. The most frequent are Glycine Receptor Alpha 1 (GLRA1), Glycine Receptor Beta (GLRB) and Solute Carrier Family 6 Member 5 (SLC6A5). They encode for the postsynaptic glycine receptor (GLRA1, GLRB) and the presynaptic glycine transport (SLC6A5). Genetic mutations in these genes lead to dysfunction in the glycinergic inhibitory neurotransmission.
The neurodevelopment was initially described as normal, or as delayed due to the motor difficulties. Global development delay and intellectual disability are reported as well, in the most recent studies.
Nevertheless, the degree of severity of the learning difficulties and the adaptive faculties of the patients is not specified.
Similarly, the efficacy of clonazepam in hyperekplexia is well known, but the evolution of dosage over time and the frequency of complete withdrawal have never been studied.
The primary endpoint of this study is to describe adaptive skills using a standardized questionnaire, Vineland Adaptive Behavior Scale (VABS2).
Secondary endpoints are:
- Neurodevelopmental course study
- Description of the evolution of the clinical manifestations over the years
- Evaluation of the efficacity of the treatment CLONAZEPAM, initially and over time, and evolution of the dosage
- Comparison of clinical and therapeutical characteristics according to the genotype
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients suffering from hereditary hyperekplexia, above 2 years of age | – | Other: collection of medical data, Other: Vineland Adaptive Behaviour Scales (VABS2) questionnaire40 patients suffering from hereditary hyperekplexia will be included. The investigators study patients suffering from hereditary hyperekplexia. The diagnostic is clinical, based on the following symptoms, appearing shortly after birth: stiffness, exaggerating response startles to unexpected stimuli, generalized stiffness after the startles. Children above 2 years old and adults are included, so the neurodevelopment can be evaluated. |
Who may qualify
- Ages
- 2 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Population of patients followed in pediatric neurology or neurology, for hereditary hyperekplexia
Key inclusion criteria (6 listed)
- Clinical diagnostic criteria for hyperekplexia (see Thomas et al. BRAIN, 2013):
- Children >2 years and adults
- No opposition of one of the two parents (or legal representative) or of the adult patient
Key exclusion criteria (4 listed)
- The presence of a cause secondary to the hyperekplexia (traumatic, autoimmune, etc.)
- The presence of another cause for a delay in psychomotor development (other neurological pathology, serious head trauma, etc.)
- Pregnant or breastfeeding women
- Person deprived of liberty by judicial or administrative decision
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 |
|---|---|---|
| collection of medical dataThe data collected concerns: * Sex * Age * Socio-professional category of patients or parents / level of education of the parents * Family history * Neonatal patient data (pregnancy, childbirth) * Clinical data (age of onset of symptoms, evolution of these symptoms over the years, psychomotor development, schooling, learning difficulties, rehabilitation) * Therapeutic data (treatments tried, their dosage and effectiveness, changes in dosage over the years) * Paraclinical examinations (Magnetic Resonance Imaging (MRI), scanner, Electroencephalography (EEG)) * Genetic data if available | Other | Patients suffering from hereditary hyperekplexia, above 2 years of age |
| Vineland Adaptive Behaviour Scales (VABS2) questionnaireThis is a standardized semi structured interview that measures adaptative skills in 4 areas, in the fields of communication, socialization, daily living, and motricity (for children under 7 years). It can be used for children and adults. Rating: 2 = yes, usually, 1 = sometimes or partly, 0 = no, never, N = not applicable (when a child is not yet of sufficient age, for example), NS = don't know. The results by domain and by sub-domain are given in raw scores which are then transformed into equivalent ages using a grid provided for this purpose. | Other | Patients suffering from hereditary hyperekplexia, above 2 years of age |
Primary outcome
VABS2 total score and specific scores (socialization, communication, daily living and motricity)
Time frame: maximum 2 months after the inclusion
The VABS2 measures adaptative scores in the fields of : * Communication (receptive, expressive, written) * Daily Living Skills (personal, domestic and in community) * Socialisation (interpersonal relationships, play and leisure time, coping skills) * Motor Skills (gross and fine motor) for children under 7 years. The domains are made up of subdomains in which the scores are added to form the domain composite scores. The four domain composite scores then combine to form the adaptive behaviour composite for those individuals aged birth to 6 years 11 months. Three domain composite scores (communication, daily living skills and socialization) combine to form the adaptive behaviour composite for those aged 7 through 90. The results are expressed with standard scores, percentile ranks, adaptive levels and age equivalents.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Aug 2025.
- Individual participant dataSharing planned: No
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.
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, run by Hospices Civils de Lyon 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 6 inclusion and 4 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: looking for participants now, as of the sponsor's last update on 11 Aug 2025. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Laurence LION FRANCOIS, MD,PhD (04 27 85 53 77 ext. +33, laurence.lion-francois@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
VABS2 total score and specific scores (socialization, communication, daily living and motricity) (time frame: maximum 2 months after the inclusion). 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 11 Aug 2025.