ESCO Natural History Study

The European STXBP1 Consortium (ESCO) will launch a large-scale, pan-European natural history study focused on STXBP1-related disorders (STXBP1-RD). This ambitious study will begin with 50 patients across its eight member countries: the Netherlands, Spain, Belgium, France, Germany, Denmark, Israel, and Italy. The study aims to recruit participants of various ages, providing a comprehensive representation of the STXBP1 population throughout different life stages. Eligible participants will be enrolled and closely monitored at the participating sites. This is a non-interventional study designed as a clinical trial. CTC-UZA is the study monitor.

white microscope on top of black table

Primary objectives:

1. Identification of relevant endpoints and outcome measures for clinical trials in STXBP1-RD.

2. Description the longitudinal natural history of patients with STXBP1-RD for external control in interventional studies with disease-modifying therapies.

Secondary objectives:

1. Identification of disease biomarkers in STXBP1-RD (diagnosis, prognosis, treatment effects).

2. Assessment of the disease burden and establish the standard of care of STXBP1-RD.

turned on flat screen monitor

Natural History Study at a Glance

The NHS will have 50 enrolled participants for the first year of the study. The doctor and caregiver are responsible for entering data.

nhs
person sitting while using laptop computer and green stethoscope near

How does it work?

  1. in You sign the consent form.
  2. You and your child:
    • come to clinic visit every 3-12 months for assessments
    • use the seizure diary app
    • fill the questionnaires
  3. Enter the data:
    • You enter the caregiver-reported data.
    • Your doctor enters the clinical data.

During the visit at the hospital

The doctor interviews the parents.

interview

The doctor examines the child.

baby

A therapist assesses development.

therapist

A technician performs EEG.

eeg

A nurse takes a blood test.

blood test

The parents answer questionnaires.

questionnaires

A professional Clinical Research Organization (CRO) checks the adherence to the protocol and the quality of data collection at each study site.

By achieving these objectives, the ESCO natural history study will provide a detailed understanding of STXBP1-RD and pave the way for innovative treatments. The consortium's work will significantly contribute to improving diagnosis, tracking disease progression, and setting the stage for future clinical trials, ultimately enhancing the lives of those affected by STXBP1-RD.

For more information on the participating institutes, please click here. Together, we can make significant strides toward understanding and managing STXBP1-related disorders, ultimately paving the way for innovative treatments and better patient outcomes.

Would you like to learn more about what natural history studies are? Check out this video from STXBP1 Disorders (USA).

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