Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy

STXBP1 Encephalopathy With Epilepsy Clinical Trial

— FIMBEX  

Official title:

Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT06356233
• Other study ID #: FIMBEX
• Status: Not yet recruiting
• Start date: May 1, 2024
• Est. completion date: December 31, 2027

Study information

• Verified date: April 2024
• Source: Fundación Iniciativa para las Neurociencias (FINCE)
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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).

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 10
• Est. completion date: December 31, 2027
• Est. primary completion date: October 1, 2027
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 1 Month to 10 Years

Eligibility

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.

Related Conditions & MeSH terms

• Brain Diseases
• STXBP1 Encephalopathy With Epilepsy

Intervention

Other:
• No intervention will be performed
No intervention will be performed

Locations

Country	Name	City	State
Spain	Hospital Ruber Internacional	Madrid

Sponsors (1)

Lead Sponsor	Collaborator
Fundación Iniciativa para las Neurociencias (FINCE)

Country where clinical trial is conducted

Spain, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	CSF biomarkers		Baseline, 1 year and 2 years
Primary	EEG markers		Baseline, 1 year and 2 years
Primary	MRI markers		Baseline, 1 year and 2 years
Secondary	Clinical phenotype		Baseline, 1 year and 2 years