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Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy

NCT06356233 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 10

Last updated 2024-04-10

No results posted yet for this 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).

Conditions

  • STXBP1 Encephalopathy With Epilepsy

Interventions

OTHER

No intervention will be performed

No intervention will be performed

Sponsors & Collaborators

  • Fundación Iniciativa para las Neurociencias (FINCE)

    lead OTHER

Eligibility

Min Age
1 Month
Max Age
10 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2024-05-01
Primary Completion
2027-10-01
Completion
2027-12-31

Countries

  • Spain

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06356233 on ClinicalTrials.gov