Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy (FIMBEX)

April 4, 2024 updated by: Adrián Valls Carbó, Fundación Iniciativa para las Neurociencias (FINCE)
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).

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

10

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Spain
      • Madrid, Spain, 28034
        • Hospital Ruber Internacional
        • Principal Investigator:
          • Antonio Gil-Nagel, MD
        • Contact:
        • Contact:
          • Antonio Gil-Nagel, MD, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

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

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
CSF biomarkers
Time Frame: Baseline, 1 year and 2 years
Baseline, 1 year and 2 years
EEG markers
Time Frame: Baseline, 1 year and 2 years
Baseline, 1 year and 2 years
MRI markers
Time Frame: Baseline, 1 year and 2 years
Baseline, 1 year and 2 years

Secondary Outcome Measures

Outcome Measure
Time Frame
Clinical phenotype
Time Frame: Baseline, 1 year and 2 years
Baseline, 1 year and 2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fundación Iniciativa para las Neurociencias (FINCE)

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

May 1, 2024

Primary Completion (Estimated)

October 1, 2027

Study Completion (Estimated)

December 31, 2027

Study Registration Dates

First Submitted

April 4, 2024

First Submitted That Met QC Criteria

April 4, 2024

First Posted (Actual)

April 10, 2024

Study Record Updates

Last Update Posted (Actual)

April 10, 2024

Last Update Submitted That Met QC Criteria

April 4, 2024

Last Verified

April 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • FIMBEX

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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