Ignite Creation Date:
2024-05-06 @ 6:24 PM
Last Modification Date:
2024-10-26 @ 2:47 PM
Study NCT ID:
NCT05652101
Status:
RECRUITING
Last Update Posted:
2024-05-31
First Post:
2022-12-07
Brief Title:
Hyperekplexia Adaptative Skills and Neurodevelopmental Trajectory
Sponsor:
Hospices Civils de Lyon
Organization:
Hospices Civils de Lyon
Study Overview
Official Title:
Study of Adaptative Skills and Neurodevelopmental Trajectory for Patients With Hyperekplexia Startle Disease
Status:
RECRUITING
Status Verified Date:
2024-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
StarDev
Brief 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
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 2022-A02107-36 | OTHER | ID-RCB | None |