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

Study identification

• EU PAS number:
  EUPAS107644
• Study ID:
  107645
• Official title and acronym:
  Phenotyping and Identification of Biological Markers in STXBP1 Encephalopathy (FIBMEX)
• DARWIN EU® study:
  No
• Study countries:
  Spain
• Study description:
  This is a prospective observational study to evaluate the phenotype of 10 patients under 10 years of age with developmental epileptic encephalopathy due to STXBP1 gene mutation. The study will consist of a clinical and neurodevelopmental evaluation, magnetic resonance imaging, prolonged electroencephalogram, cardiological study, and cerebrospinal fluid biomarker analysis. A 3-year follow-up of these patients will be performed. The aim of the study is, knowing the baseline phenotype, to analyze 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 evaluation (EEG, MRI and study of specific proteins and neurotransmitters in plasma, urine and CSF).
• Study status:
  Planned

Study timelines

Date when funding contract was signed

Planned:14/11/2023

Study start date

Planned:01/01/2024

Date of final study report

Planned:31/12/2027

Sources of funding

Other

More details on funding

Fundacion Iniciativa para las Neurociencias

Regulatory

• Was the study required by a regulatory body?:
  No
• Is the study required by a Risk Management Plan (RMP)?:
  Not applicable