Patient-Powered Research

In ultra-rare disease research, patients are essential partners in science. Patient-powered research harnesses the lived experience, clinical data, and biological contributions of people affected by EHE to generate the insights that drive discovery.

Through the EHE Global Patient Registry and EHE Biobank, the Foundation transforms patient participation into data and biospecimens that power rigorous, patient-centered research. This work is foundational to advancing understanding of disease biology, identifying effective treatments, and improving outcomes for people living with EHE.

Why Patient-Powered Research Matters in Rare Disease

Ultra-rare diseases like EHE present a unique research challenge: patient populations are too small and too geographically dispersed to generate the data volume needed for traditional clinical trials or natural history studies.

Patient-powered research addresses this challenge by creating infrastructure that enables people with EHE to contribute directly to science—through registries, biospecimen donation, and shared medical histories. This approach gives researchers access to the foundational data they need to reveal disease patterns, identify biomarkers, inform clinical trial design, and ultimately accelerate the path to new treatments.

Patient participation is essential to ultra-rare disease research.

EHE Global Patient Registry

The EHE Global Patient Registry (GPR) is a natural-history study in which people diagnosed with EHE can contribute data about their diagnosis, treatment, disease course, and outcomes over time. Participants self-report information through questionnaires covering:

• Socio-demographics and medical history
• EHE diagnosis and treatment
• Disease progression and care utilization
• Pain levels and quality of life

This information serves multiple purposes: it describes who has EHE, tracks how the disease changes, documents how clinicians manage it, identifies candidates for clinical trials, and educates the community.

The Registry generates insights that enable epidemiologic, clinical, and observational research–discoveries that would be impossible in such a small patient population without collaborative participation.

EHE Biobank

The EHE Biobank is a centralized collection of high-quality biospecimens—including tumor tissue, blood, plasma, and serosal fluid—donated by people with EHE. De-identified specimens are paired with clinical data and made available to qualified researchers upon review of scientific merit.

Patient-donated specimens enable researchers to conduct biological studies, discover biomarkers, develop disease models, and test potential drugs—work that accelerates progress toward new treatments for people with EHE.