Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: No intervention will be performed.
- Who it may be relevant to
- Registry conditions: STXBP1 Encephalopathy With Epilepsy. Basic parameters: 1 months — 10 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Spain
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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).
Interventions
- Other No intervention will be performed
No intervention will be performed
Primary outcome measures
- 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]
Secondary outcome measures (1)
- Clinical phenotype [Time frame: Baseline, 1 year and 2 years]
Eligibility criteria
Inclusion criteria
- 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 criteria
- Presence of functional disability that prevents the neuropsychological study from being carried out and absence of a reliable informant for the patient.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
Spain · 1 center
- Hospital Ruber Internacional — Madrid
Identifiers
NCT: NCT06356233 · FIMBEX