RecruitingNot Applicable

Hyperekplexia : Adaptative Skills and Neurodevelopmental Trajectory

France40 participantsStarted 2023-04-24

Plain-language 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. 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

Who can participate

Age range

2 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * 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 Exclusion Criteria: * 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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

VABS2 total score and specific scores (socialization, communication, daily living and motricity)

Timeframe: maximum 2 months after the inclusion

Trial details

NCT IDNCT05652101

SponsorHospices Civils de Lyon

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2027-06-01

Contact for this trial

Laurence LION FRANCOIS, MD,PhD

04 27 85 53 77 laurence.lion-francois@chu-lyon.fr

View on ClinicalTrials.gov More Hyperekplexia trials