ECD-Score: a Study on Erdheim-Chester Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Erdheim-Chester Disease (ECD). Basic parameters: from 7 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, France, Italy, United Kingdom
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Predicting Long-term Prognosis in Erdheim-Chester Disease: A New Comprehensive Approach
Overview
Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis that primarily affects adults but may also occur in pediatric patients. It is characterized by the accumulation of foamy histiocytes with a distinctive immunophenotype in multiple anatomical sites, most commonly the long bones, retroperitoneal and perirenal tissues, the heart, the central nervous system, and the pituitary gland. The disease shows marked clinical heterogeneity, ranging from localized and asymptomatic forms to severe manifestations with multiorgan involvement. From a pathogenetic perspective, ECD is mainly driven by gain-of-function mutations affecting the MAPK and PI3K-AKT pathways, particularly the BRAFV600E mutation, leading to aberrant activation of the MAPK and mTOR signaling pathways. The release of pro-inflammatory cytokines and chemokines plays a key role in systemic inflammation and tissue damage, resulting in significant complications and disability depending on the organs involved. Despite the significant efforts of international research in recent years, particularly given the extreme rarity of the disease (incidence below 5 cases per 10,000,000 adults per year), substantial knowledge gaps remain, especially with regard to the prediction of long-term outcomes, both in terms of survival and disability. Although some prognostic factors associated with survival have already been identified (such as central nervous system involvement), to date only limited-scale studies have systematically evaluated the prognosis of patients with ECD, focusing in particular on factors influencing organ-specific complications. Moreover, in clinical practice, several aspects that significantly affect patients' quality of life tend to be underestimated, partly due to the time required to perform comprehensive assessments using detailed questionnaires designed to quantify disease-related consequences, such as chronic disability, depression, and cognitive impairment. Nevertheless, there is a growing need for and interest in these parameters, commonly referred to as patient-reported outcomes. In light of these considerations, the development and implementation of a comprehensive prognostic score aimed at predicting survival and long-term disease outcomes could improve the overall assessment of patients and provide more accurate and clinically meaningful prognostic information.
Primary outcome measures
- Overall survival [Time frame: 5 years]
- Association between belonging to a clinical cluster and survival [Time frame: 5 years]
- Association between organ damage and survival [Time frame: 5 years]
- Association between the treatment used (relative to the historical period) and survival [Time frame: 5 years]
- Association between response to treatment and survival [Time frame: 5 years]
- Association between treatment toxicity and survival [Time frame: 5 years]
- Association between comorbidities and survival [Time frame: 5 years]
- Association between geographical origin and survival [Time frame: at enrollment]
Secondary outcome measures (2)
- Incidence of comorbidities secondary to the disease or treatment (e.g., secondary malignancies) [Time frame: 5 years]
- Association between disease and quality of life [Time frame: 5 years]
Eligibility 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 3 centers
- National Institute of Health — Bethesda
- Mayo Clinic — Rochester
- Memorial Sloan Kettering Cancer Center — New York
Italy · 2 centers
- Meyer Children's Hospital IRCCS, Firenze — Florence
- San Raffaele Hospital — Milan
France · 1 center
- Hopital Pitiè-Salpetriere — Paris
United Kingdom · 1 center
- Newcastle Upon Tyne Hospitals NHS Foundation Trust — Newcastle
Identifiers
NCT: NCT07454343 · ECD-Score