ECD-Score: tracking disease features and outcomes in Erdheim-Chester disease
Predicting Long-term Prognosis in Erdheim-Chester Disease: A New Comprehensive Approach
This observational project will collect clinical, molecular, and treatment data from people with Erdheim‑Chester disease to try to create an 'ECD‑Score' that tracks disease activity and outcomes.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 7 Years and up |
| Sex | All |
| Sponsor | Meyer Children's Hospital IRCCS Academic / other |
| Locations | 7 sites (Bethesda, Maryland and 6 other locations) |
| Trial ID | NCT07454343 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Adults and children with a confirmed ECD diagnosis per international guidelines who can provide clinical, molecular, treatment, and at least one year of follow‑up data and give informed consent.
Not a fit: Patients without adequate diagnostic or follow‑up records, or who cannot or will not provide consent, would not be eligible and are unlikely to benefit from this observational effort.
Why it matters
Potential benefit: If successful, the ECD‑Score could help doctors predict disease course and choose treatments more precisely for people with ECD.
How similar studies have performed: Prior research identifying BRAFV600E and the benefit of targeted therapies, together with existing registries that have informed care, supports this observational approach, though a formal ECD composite scoring system is a newer effort.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Bethesda, Maryland and 6 other locations
- 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)
- Meyer Children's Hospital IRCCS, Firenze — Florence, Fi, Italy (Recruiting)
- San Raffaele Hospital — Milan, Italy, Italy (Not_yet_recruiting)
- Newcastle Upon Tyne Hospitals NHS Foundation Trust — Newcastle, Newcastel, United Kingdom (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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.