ESCO Patient Registry

The European STXBP1 Consortium (ESCO) is dedicated to advancing the understanding and treatment of STXBP1-related disorders (STXBP1-RD). Central to this mission is the establishment of a comprehensive European patient registry. This registry is a vital resource for collecting extensive data on individuals affected by STXBP1-RD across Europe and Israel. By compiling detailed information on the clinical progression of these disorders, ESCO facilitates a prospective natural history study aimed at uncovering key insights into the underlying biology of STXBP1-RD, identifying markers of disease severity, and monitoring the long-term effects of potential treatments.

The ESCO registry is designed with inclusivity in mind, welcoming patients of all ages and genders. As of January 2024, the registry already encompasses a significant cohort from the eight ESCO member countries, with plans to expand to additional regions. The participating countries include a network of affiliated hospitals, ensuring that the research captures a broad and diverse patient population. The consortium aims to maximize patient enrollment, fostering a robust pan-European network that contributes to a deeper understanding of STXBP1-RD.

As of January 2024

By participating in the ESCO registry, patients and their families become part of a collaborative effort to drive forward the development of targeted therapies and improve the quality of life for those affected by STXBP1-RD. The data collected through this registry is invaluable for researchers seeking to identify disease markers and track treatment outcomes, providing a foundation for clinical trials and therapeutic advancements.

The consortium’s vision extends beyond data collection; it is about building a community of patients, caregivers, clinicians, and researchers united by a common goal. ESCO actively encourages eligible individuals to join the registry, emphasizing the critical role that each participant plays in this groundbreaking research.

Registry and Natural History Study

ESCO’s Registry is planned as an overarching infrastructure that will contain the NHS.

The registry is housed on an online platform, and is open to anyone with STXBP1. You and your doctor are both responsible for entering data into this platform.

How can I take part?

You sign the consent form.
We send the link to you and to your doctor.
Enter the data:
- You enter the caregiver-reported data.
- Your doctor enters the clinical data.
The data can be updated every 12 months.

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. Your involvement is key to the success of this endeavor, and we invite you to be a part of this important journey.