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Clinical Trials in Spain / NCT06356233
Starting soon Observational

Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy

NCT06356233 · tracked via the Priya Life Science Spain tracker
Sponsor
Fundación Iniciativa para las Neurociencias (FINCE)
Phase
Observational
Started
2024-05-01
Last updated
2024-04-10

Condition(s) studied

STXBP1 Encephalopathy With Epilepsy

Investigational drug(s) / intervention(s)

No intervention will be performed

No intervention will be performed: No intervention will be performed

Study 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).

Eligibility

Sex
ALL
Min age
1 Month
Max age
10 Years
Healthy volunteers
Accepted
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.

Primary outcome measure(s)

  • CSF biomarkers — Baseline, 1 year and 2 years
  • EEG markers — Baseline, 1 year and 2 years
  • MRI markers — Baseline, 1 year and 2 years

Trial sites (1)

FacilityCityRegionStatus
Hospital Ruber Internacional Madrid Spain
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06356233 on ClinicalTrials.gov ↗ ← All trials in Spain