Erdheim-Chester Disease (ECD)NCT07454343
ECD-Score: a Study on Erdheim-Chester Disease
An observational study of Erdheim-Chester Disease (ECD), run by Meyer Children's Hospital IRCCS at 7 sites in 4 countries.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 7 years and older
- Conditions the study is for
- Erdheim-Chester Disease (ECD)
- How many people
- 1,000 participants
- Where
- 7 sitesin 4 countries
- Study dates
- 23 Dec 2024to Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 7 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with ECD will be recruited and will attend outpatient visits at the study coordination center at the Meyer IRCCS University Hospital (Florence) and other participating centers. The patients to be enrolled will be "prevalent" and "incident" patients during the 5-year study period. Patients undergoing follow-up at their respective centers will be involved in the study, as well as those who receive a new diagnosis of ECD during the study period.
Who may be able to join
- 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.
Who cannot join
- lack of diagnostic or follow-up data
- refusal or inability to sign the informed consent form
Trial locations and contacts
7 sites in 4 countries. Contact the study team or a site near you to ask about taking part.
7 sites in 4 countries
United States3 sites, 3 recruiting
- Not yet recruiting
National Institute of Health
Bethesda, Maryland, 20892
Kevin O'Brien, Medical Doctor
- Not yet recruiting
Memorial Sloan Kettering Cancer Center
New York, New York, 10065
Eli L. Diamond, Medical Doctor
- Not yet recruiting
Mayo Clinic
Rochester, Minnesota, 55902
Matthew J. Koster, Medical Doctor
Italy2 sites, 2 recruiting
- Recruiting
Meyer Children's Hospital IRCCS, Firenze
Florence, Fi, 50134
Augusto Vaglio, 055 5662905, augusto.vaglio@meyer.it
- Not yet recruiting
San Raffaele Hospital
Milan, Italy
Lorenzo Dagna, Medical Doctor
France1 site, 1 recruiting
- Not yet recruiting
Hopital Pitiè-Salpetriere
Paris
Julien Haroche, Medical Doctor
United Kingdom1 site, 1 recruiting
- Not yet recruiting
Newcastle Upon Tyne Hospitals NHS Foundation Trust
Newcastle, Newcastel
Matthew Collin, Medical Doctor
About this study
Official title: Predicting Long-term Prognosis in Erdheim-Chester Disease: A New Comprehensive Approach
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.
- Conditions
- Erdheim-Chester Disease (ECD)
- Medical subject headings
- Erdheim-Chester Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| patients with Erdheim-Chester disease (ECD) | Patients with ECD will be recruited and will attend outpatient visits at the study coordination center at the Meyer IRCCS University Hospital (Florence) and other participating centers. The patients to be enrolled will be "prevalent" and "incident" patients during the 5-year study period. Patients undergoing follow-up at their respective centers will be involved in the study, as well as those who receive a new diagnosis of ECD during the study period. Clinical data will be collected from all patients included, focusing primarily on organ involvement and response to treatment. They will also be asked to complete questionnaires on quality of life and other specific outcomes. Epidemiological data will also be considered, in particular the geographical origin of patients, and survival rates will also be evaluated. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Overall survival
The time from the patient's enrollment in the study until death or the last available follow-up
Measured: 5 years
Association between belonging to a clinical cluster and survival
Clinical cluster of ECD
Measured: 5 years
Association between organ damage and survival
organ damage related to the disease (e.g., chronic kidney failure)
Measured: 5 years
Association between the treatment used (relative to the historical period) and survival
treatment received
Measured: 5 years
Association between response to treatment and survival
complete response rate, partial response, stable disease, progression
Measured: 5 years
Association between treatment toxicity and survival
incidence and severity of adverse events (classified according to CTCAE v6.0)
Measured: 5 years
Association between comorbidities and survival
presence of malignant tumors and other chronic diseases
Measured: 5 years
Association between geographical origin and survival
geographical origin
Measured: at enrollment
Secondary outcomes (2)
Incidence of comorbidities secondary to the disease or treatment (e.g., secondary malignancies)
To assess the incidence of organ damage related to the disease or comorbidities secondary to the disease or the treatment received
Measured: 5 years
Association between disease and quality of life
Assessment of the impact on quality of life following disease diagnosis and in response to treatment, using validated questionnaires
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Mar 2026
- Study start23 Dec 2024
- Primary completionJun 2028 (estimated)
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Erdheim-Chester Disease (ECD)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Meyer Children's Hospital IRCCS
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Augusto Vaglio, Meyer Children's Hospital IRCCS
- Investigators
- Augusto Vaglio, Medical Doctor, Principal investigator, Meyer Children's Hospital IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07454343
- Sponsor's protocol ID
- ECD-Score
- Status last verified
- Mar 2026
- First submitted
- 2 Mar 2026
- Last updated
- 6 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Predicting Long-term Prognosis in Erdheim-Chester Disease: A New Comprehensive Approach
- ClinicalTrials.gov ID
- NCT07454343
- Acronym / sponsor ID
- ECD-Score
- Conditions
- Erdheim-Chester Disease (ECD)
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Meyer Children's Hospital IRCCSUniversity, hospital or other
- Study start
- 23 Dec 2024 (actual)
- Primary completion
- Jun 2028 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 6 Mar 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| patients with Erdheim-Chester disease (ECD) | – | –Patients with ECD will be recruited and will attend outpatient visits at the study coordination center at the Meyer IRCCS University Hospital (Florence) and other participating centers. The patients to be enrolled will be "prevalent" and "incident" patients during the 5-year study period. Patients undergoing follow-up at their respective centers will be involved in the study, as well as those who receive a new diagnosis of ECD during the study period. Clinical data will be collected from all patients included, focusing primarily on organ involvement and response to treatment. They will also be asked to complete questionnaires on quality of life and other specific outcomes. Epidemiological data will also be considered, in particular the geographical origin of patients, and survival rates will also be evaluated. |
Who may qualify
- Ages
- 7 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with ECD will be recruited and will attend outpatient visits at the study coordination center at the Meyer IRCCS University Hospital (Florence) and other participating centers. The patients to be enrolled will be "prevalent" and "incident" patients during the 5-year study period. Patients undergoing follow-up at their respective centers will be involved in the study, as well as those who receive a new diagnosis of ECD during the study period.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (2 listed)
- lack of diagnostic or follow-up data
- refusal or inability to sign the informed consent form
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Overall survival
Time frame: 5 years
The time from the patient's enrollment in the study until death or the last available follow-up
Association between belonging to a clinical cluster and survival
Time frame: 5 years
Clinical cluster of ECD
Association between organ damage and survival
Time frame: 5 years
organ damage related to the disease (e.g., chronic kidney failure)
Association between the treatment used (relative to the historical period) and survival
Time frame: 5 years
treatment received
Association between response to treatment and survival
Time frame: 5 years
complete response rate, partial response, stable disease, progression
Association between treatment toxicity and survival
Time frame: 5 years
incidence and severity of adverse events (classified according to CTCAE v6.0)
Association between comorbidities and survival
Time frame: 5 years
presence of malignant tumors and other chronic diseases
Association between geographical origin and survival
Time frame: at enrollment
geographical origin
2 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Mar 2026.
- Individual participant dataSharing planned: No
Related trials for Erdheim-Chester Disease (ECD)
Active, not recruitingPhase 2
Lenalidomide for Adult Histiocyte Disorders
Langerhans Cell Histiocytosis (LCH), Histiocytoses Erdheim-chester Disease
RecruitingObservational study
International Rare Histiocytic Disorders Registry (IRHDR)
Rare Histiocytic Disorders (RHDs), Erdheim-Chester Disease (ECD)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Augusto Vaglio, Medical Doctor principal investigator
Meyer Children's Hospital IRCCS
7 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Erdheim-Chester Disease (ECD), run by Meyer Children's Hospital IRCCS at 7 sites in 4 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites in United States, Italy, France, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Augusto Vaglio, Medical Doctor (055 5662905, augusto.vaglio@meyer.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Overall survival (time frame: 5 years). The study lists 8 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Mar 2026.