Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy

NCT06356233 | Not Yet Recruiting

• 1 other identifier: FIMBEX
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

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).

Conditions

STXBP1 Encephalopathy With Epilepsy

Keywords

STXBP1

Outcome Measures

Primary Outcomes (3)

• CSF biomarkers

  Baseline, 1 year and 2 years

• EEG markers

  Baseline, 1 year and 2 years

• MRI markers

  Baseline, 1 year and 2 years

Secondary Outcomes (1)

• Clinical phenotype

  Baseline, 1 year and 2 years

Interventions

No intervention will be performed OTHER

No intervention will be performed

Eligibility Criteria

• Age: 1 Month - 10 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Patients under 10 years of age with confirmed mutation for STXBP1 willing to collaborate in the study.

You may qualify if:

• 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.

You may not qualify if:

• Presence of functional disability that prevents the neuropsychological study from being carried out and absence of a reliable informant for the patient.

Sponsors & Collaborators

• Fundación Iniciativa para las Neurociencias (FINCE): lead

Study Sites (1)

Hospital Ruber Internacional

Madrid, 28034, Spain

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

CSF

MeSH Terms

Conditions

Epileptic Encephalopathy, Early Infantile, 4

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: April 4, 2024
• First Posted: April 10, 2024
• Study Start: May 1, 2024
• Primary Completion (Estimated): October 1, 2027
• Study Completion (Estimated): December 31, 2027
• Last Updated: April 10, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

ES (1)