Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

10 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-05-01

Study Completion Date

2027-12-31

Brief Summary

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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).

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Detailed Description

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Conditions

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STXBP1 Encephalopathy With Epilepsy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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No intervention will be performed

Intervention Type OTHER

Eligibility Criteria

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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.

Minimum Eligible Age

1 Month

Maximum Eligible Age

10 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes