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NCT05652101: StarDev
Hyperekplexia : Adaptative Skills and Neurodevelopmental Trajectory
trial testing collection of medical data in Hyperekplexia in 40 participants. Currently enrolling.
1 June 2027
Quick facts
| Lead sponsor | Hospices Civils de Lyon |
|---|---|
| Status | Recruiting now |
| Study type | OBSERVATIONAL |
| Enrollment | 40 |
| Start date | 24 April 2023 |
| Primary completion | 1 June 2027 |
| Estimated completion | 1 June 2027 |
| Sites | 1 location across France |
Drugs / interventions tested
- collection of medical data
- Vineland Adaptive Behaviour Scales (VABS2) questionnaire
Conditions studied
- Hyperekplexia — all drugs for Hyperekplexia →
Sponsor
Hospices Civils de Lyon — full company profile →
Who can join
2 and older, any sex, with Hyperekplexia. Patients with the condition only — healthy volunteers not accepted.
Sponsor's own description
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
Publications & conference data
No peer-reviewed publications indexed yet for this trial.
Verify or expand the search:
- PubMed search for NCT05652101
- Europe PMC full search
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Verify against primary sources
- ClinicalTrials.gov — authoritative US registry record
- WHO ICTRP — international registry index
- EU Clinical Trials Register
- Sponsor press releases (Google)
- Trial protocol + status: ClinicalTrials.gov NCT05652101 (US National Library of Medicine, public domain)
- Drug + disease cross-links: matched in real time against Drug Landscape's normalised drug + company + condition tables
- Sponsor: as reported to ClinicalTrials.gov by Hospices Civils de Lyon
- Last refreshed: 11 August 2025
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