An observational study in STXBP1 Encephalopathy With Epilepsy, sponsored by Fundación Iniciativa para las Neurociencias (FINCE). Not yet recruiting at 1 site in Spain. Open to participants aged 1 Month to 10 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-04-10.
Sponsored by Fundación Iniciativa para las Neurociencias (FINCE) · Observational
This is a prospective observational study to evaluate the phenotype of 10 patients under 10 years of age with developmental epileptic encephalopathy due to mutation of the STXBP1 gene. The study will consist of a clinical and neurodevelopmental evaluation, magnetic resonance imaging, prolonged electroencephalogram, cardiological study, and analysis of biomarkers in cerebrospinal fluid. These patients will be followed up for 3 years. The aim of the study is, knowing the baseline phenotype, to analyse the response to commonly used drugs and to anticipate the response to different drugs available on the market in this group of patients based on clinical and biomarker assessment (EEG, MRI and study of specific proteins and neurotransmitters in plasma, urine and CSF).
758 studies on the registry are indexed under Brain Diseases; 202 are open to participants now.
This study's planned enrollment of 10 is below the median of 100 across 265 observational studies indexed under Brain Diseases.
Browse Brain Diseases studies →This is the only study on the registry with Fundación Iniciativa para las Neurociencias (FINCE) as lead sponsor.
Counted across the registry records on this site, refreshed daily.
Patients under 10 years of age with confirmed mutation for STXBP1 willing to collaborate in the study.
Exclusion Criteria:
No intervention will be performed
CSF biomarkers
Time frame: Baseline, 1 year and 2 years
EEG markers
Time frame: Baseline, 1 year and 2 years
MRI markers
Time frame: Baseline, 1 year and 2 years
Clinical phenotype
Time frame: Baseline, 1 year and 2 years
Plan to share: No
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