ECD-Score: tracking disease features and outcomes in Erdheim-Chester disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This multi-center observational effort enrolls adults and children with a confirmed diagnosis of Erdheim‑Chester disease and collects standardized clinical, molecular (including mutation status such as BRAFV600E), treatment, and response data with a minimum of one year of follow‑up. Data are pooled across participating centers to characterize disease heterogeneity and link molecular/pathway alterations to clinical course. No experimental treatments are given; the project analyzes existing and prospectively collected information to develop a composite score. The aim is to create a reliable tool that summarises disease burden and prognosis across organ systems.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* informed consent signed by the patient or, for minors, by a parent or legal guardian
* confirmed diagnosis of ECD according to the latest international guidelines (Goyal G, Blood 2020)
* availability of clinical, molecular, treatment and response to therapy data
* a minimum follow-up period of one year.

Exclusion Criteria:

* lack of diagnostic or follow-up data
* refusal or inability to sign the informed consent form

Where it's running

• Meyer Children's Hospital IRCCS, Firenze
  Florence, Fi, Italy Recruiting
• National Institute of Health
  Bethesda, Maryland, United States Not yet recruiting
• Mayo Clinic
  Rochester, Minnesota, United States Not yet recruiting
• Memorial Sloan Kettering Cancer Center
  New York, New York, United States Not yet recruiting
• Hopital Pitiè-Salpetriere
  Paris, France Not yet recruiting
• San Raffaele Hospital
  Milan, Italy, Italy Not yet recruiting

Study contacts

• Principal investigator: Augusto Vaglio, Medical Doctor — Meyer Children's Hospital IRCCS
• Study coordinator: Augusto Vaglio, Medical Doctor
• Email: augusto.vaglio@meyer.it
• Phone: 055 5662905

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.