Understanding hyperekplexia and its impact on development
Study of Adaptative Skills and Neurodevelopmental Trajectory for Patients With Hyperekplexia (Startle Disease)
This study is trying to learn more about how hereditary hyperekplexia affects the development and daily skills of children and adults with the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 40 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | Hospices Civils de Lyon Academic / other |
| Locations | 1 site (Bron) |
| Trial ID | NCT05652101 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on hereditary hyperekplexia, a rare genetic disorder characterized by exaggerated startle responses and stiffness. It aims to collect medical data and assess adaptive skills using the Vineland Adaptive Behavior Scales (VABS2) questionnaire in children over 2 years and adults diagnosed with the condition. The study will explore the neurodevelopmental trajectory of affected individuals, considering the impact of genetic mutations on glycinergic neurotransmission. By analyzing these factors, the study seeks to enhance understanding of hyperekplexia and its implications for patient care.
Who should consider this trial
Good fit: Ideal candidates for this study are children over 2 years and adults diagnosed with hereditary hyperekplexia.
Not a fit: Patients with secondary causes of hyperekplexia or other neurological conditions may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could improve the understanding of hyperekplexia, leading to better management strategies for affected patients.
How similar studies have performed: While there is limited research specifically on hyperekplexia, studies on related neurodevelopmental disorders have shown success in understanding adaptive skills and trajectories.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Bron
- Hopital Femme Mère Enfant — Bron, France (Recruiting)
Study contacts
- Study coordinator: Laurence LION FRANCOIS, MD,PhD
- Email: laurence.lion-francois@chu-lyon.fr
- Phone: 04 27 85 53 77
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.