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.

Key study objectives:

white microscope on top of black table
1. Collect Existing Information:

Many clinical assessments of STXBP1 patients have already been conducted across numerous hospitals in Europe. ESCO aims to gather this existing data in a standardized manner to refine and enhance the understanding of STXBP1-RD.

2. Track Symptom Development Over Time:

As a natural history study, ESCO will monitor how STXBP1-RD symptoms evolve in patients over the years. This long-term tracking will create a valuable reference for evaluating future treatments aimed at improving the condition's symptoms.

3. Improve Diagnosis:

ESCO seeks to synchronize the definition of symptoms across EU clinics using standardized scales and promote objective, quantitative assessments. The study will integrate various aspects of the condition, from seizures and sleep disturbances to communication and digestion issues.

4. Set Benchmarks for Clinical Trials (Biomarkers):

Identifying measurable indicators of the disease is crucial for monitoring treatment effects in future clinical trials. ESCO will work to establish these biomarkers, ensuring that trials are effective and meaningful.

turned on flat screen monitor
person sitting while using laptop computer and green stethoscope near
5. Find Disease Markers (Endpoints):

The study aims to identify measurable outcomes that can determine the effectiveness of future treatments. These endpoints will be critical in assessing the impact of new therapies.

6. Evaluate Impact on Life and Care Needs:

ESCO will examine how STXBP1-RD affects the quality of life and identify the unmet needs of patients and their caregivers. This analysis will help establish best practices for caring for individuals with STXBP1-RD.

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.

Scroll to Top