The Erdheim-Chester Disease Global Alliance (ECDGA) is proud to spotlight one of the innovative research projects currently funded through our grant program. Led by Dr. Francesco Peyronel at Meyer Children’s Hospital IRCCS and the University of Florence in Italy, this project aims to significantly enhance our understanding of long-term outcomes in Erdheim-Chester Disease (ECD) through the development of a novel clinical scoring system.

Erdheim-Chester Disease is an ultra-rare form of blood cancer that can affect numerous organs throughout the body. Due to its rarity and complexity, large-scale studies evaluating patient outcomes over time have been limited. While prior research has identified some predictors of survival, there remains an urgent need for a more comprehensive model to guide prognosis and support patient care.

A Global Effort to Understand the Full Picture

Dr. Peyronel’s project, titled “A new comprehensive approach to predict long-term prognosis in Erdheim-Chester disease: from cluster analysis to patient-reported outcomes,” is designed to bridge critical knowledge gaps in the field. The primary goal is to create a validated scoring system that clinicians can use to better predict survival and long-term disease-related outcomes for individuals living with ECD.

This research is truly global in scope. Patients are being recruited from ECD centers that are part of the ECDGA’s international network, and the data collection is being coordinated centrally from Florence. The project seeks to build what could become the largest ECD patient cohort ever assembled, combining clinical data with insights reported directly by patients on quality of life and functional ability.

Methodology and Milestones

The study collects an expansive range of data points, including demographics, disease clustering, comorbidities, organ involvement, treatment details, and patient-reported outcomes. Outcomes will be evaluated at 1, 5, and 10 years following diagnosis. The research team is using advanced statistical modeling techniques—including Cox regression and root-cause analysis—to identify predictors of survival and chronic disease sequelae.

The data gathered will feed into the creation of a robust scoring system, which will be internally validated and designed for practical clinical use.

Since launching in July 2024, the project has made notable progress:

• Ethics committee approval was secured in line with all regulatory standards.

• A dedicated researcher has been hired to manage and coordinate data collection efforts.

• Over 1,044 ECD patient records have already been collected across participating centers.

• Rigorous data quality checks have been implemented to ensure consistency and accuracy.

An interim analysis is now in preparation, and preliminary findings are expected to be shared in the coming months.

Looking Ahead

The next phase of the project will focus on finalizing the dataset and conducting interim statistical analyses. The research team also plans to expand the patient database further and begin disseminating early findings through scientific conferences and academic publications.

Notably, an abstract from this study has already been accepted for oral presentation at the upcoming 2025 ECDGA Medical Symposium in Barcelona. This opportunity reflects both the caliber and potential impact of the research.

The Power of Community Support

This project—and others like it—would not be possible without the generosity of donors and the dedication of the global ECD community. Every dollar raised supports critical work that brings us closer to earlier diagnoses, more informed care, and ultimately, a cure.

At ECDGA, our mission is rooted in advancing awareness, education, support, and research for Erdheim-Chester Disease. By funding studies like Dr. Peyronel’s, we are not only supporting science—we are investing in the future of every patient and family affected by this disease.

To learn more about our research initiatives or to support our mission, visit: www.erdheim-chester.org/research

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The Erdheim-Chester Disease Global Alliance (ECDGA) does not provide medical advice, diagnoses, or treatments. All content is for informational purposes only. Please consult with a healthcare provider for medical concerns.