Hyperekplexia : Adaptative Skills and Neurodevelopmental Trajectory

Recruiting now

Conditions studied: Hyperekplexia

In brief

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

Key facts

Study ID

NCT05652101

Run by

Hospices Civils de Lyon

People needed

40

Starts

2023-04-24

Expected to finish

2027-06-01

Last updated by the study team

2025-08-11

Who can join

Age: 2 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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

Where it is running

• Hopital Femme Mère Enfant — Bron, France (enrolling)

Full record on ClinicalTrials.gov

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