Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy

Launched by FUNDACIÓN INICIATIVA PARA LAS NEUROCIENCIAS (FINCE) · Apr 4, 2024

Keywords

ClinConnect Summary

This clinical trial is studying a condition called STXBP1 encephalopathy, which is a type of severe epilepsy that affects young children due to a specific gene mutation. The researchers will look at 10 children under the age of 10 who have this mutation to understand their unique health characteristics and how their bodies respond to different treatments. Over three years, these children will undergo various tests, including brain scans, electrical activity monitoring of the brain, and other analyses to find biological markers. The goal is to gather important information that can help doctors predict how well different medications may work for these patients.

To be eligible for this study, children must be under 10 years old and have a confirmed mutation in the STXBP1 gene. If the mutation cannot be confirmed through standard testing, additional genetic testing will be done. However, children who have severe disabilities that might prevent them from participating in neuropsychological assessments, or those without a reliable caregiver to provide information about their condition, will not be included. This study is currently not recruiting participants, but it aims to provide valuable insights that could improve treatment options for children with this challenging condition.

Gender

ALL

Eligibility criteria

• 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.