Studies children with STXBP1 epilepsy and tracks biological markers over 3 years
Follows 10 children with STXBP1 encephalopathy for 3 years, without giving any drug.
Plain-language title generated from the registry record
Registry title: Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy
Key facts
- Where
- Madrid, SpainSee the site
Where in Spain
- Hospital Ruber InternacionalMadrid, SpainNo longer taking part
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Fundación Iniciativa para las Neurociencias (FINCE)
- Trial code
- NCT06356233
- Record updated
- 10 April 2024
- Original description
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).Read full original descriptionShow less
Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy
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).
Inclusion: Patients under 10 years of age with confirmed mutation for STXBP1. In cases where the diagnostic technique for the mutation is not optimal, a trio exome will be performed to confirm the mutation.
Exclusion: Presence of functional disability that prevents the neuropsychological study from being carried out and absence of a reliable informant for the patient.