Erdheim-Chester DiseaseNCT06332183
GWAS and EWAS in Patients With Erdheim-Chester Disease
An observational study of Erdheim-Chester Disease, run by Augusto Vaglio at 5 sites in 3 countries.
Trial summary
Erdheim-Chester Disease (ECD) is a rare form of histiocytosis characterized by the proliferation of blood cells, known as histiocytes, which infiltrate various organs and tissues, often causing irreversible damage. Read more about this study
- Who is it for?
- Ages 1 year to 99 years
- Conditions the study is for
- Erdheim-Chester Disease
- What is being tested?
- Presence of polymorphisms
- How many people
- 300 participants
- Where
- 5 sitesin 3 countries
- Study dates
- 17 Jul 2019to 1 Oct 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
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 1 year to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Incident and prevalent patients with ECD
Who may be able to join
- ECD with histological confirmation of disease
Who cannot join
- previously treated patients (for methylation and gene expression)
Trial locations and contacts
5 sites in 3 countries.
5 sites in 3 countries
Italy3 sites, 3 recruiting
- Recruiting
Meyer Children's Hospital IRCCS
Florence
Augusto Vaglio, augusto.vaglio@meyer.it
- Recruiting
IRCCS Ospedale San Raffaele
Milan
Lorenzo Dagna
- Recruiting
AOU Parma
Parma
Davide Martorana
France1 site, 1 recruiting
- Recruiting
Hopital Pitié Salpetrière
Paris
Julien Haroche
About this study
Official title: Genome-wide Association Study (GWAS) and Epigenome-wide Association Study (EWAS) in Patients With Erdheim-Chester Disease
Erdheim-Chester Disease (ECD) is a rare form of histiocytosis characterized by the proliferation of blood cells, known as histiocytes, which infiltrate various organs and tissues, often causing irreversible damage. The causes of the condition are still unknown, and although some mutations in genes involved in cell proliferation have been identified, other factors may be involved. Susceptibility to developing rare diseases like ECD is typically associated with genetic factors, including DNA polymorphisms and epigenetic modifications.
This study aims to analyze the entire genome of a large cohort of patients with ECD and healthy controls to determine whether there are polymorphisms and epigenetic variants associated with susceptibility to developing the disease. The study could thus clarify the genetic predisposition to ECD development, provide insights into disease pathogenic mechanisms, and identify proteins or cellular mechanisms potentially targeted by specific treatments.
- Conditions
- Erdheim-Chester Disease
- Being tested
- Presence of polymorphisms
- 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.
Presence of polymorphismsGenetic
Statistical analysis of GWAS data, Genome-wide methylation pattern analysis, Integration of GWAS data and methylation data (meQTL analysis), Pathway enrichment analysis
| Study group | Role | What they receive |
|---|---|---|
| Presence of polymorphisms | Statistical analysis of GWAS data, Genome-wide methylation pattern analysis, Integration of GWAS data and methylation data (meQTL analysis), Pathway enrichment analysis Receives: Genetic: Presence of polymorphisms |
What is being measured
The primary outcome is the main question the study is designed to answer.
Polymorphisms and genetic variants correlated with disease development
To investigate the presence of polymorphisms and genetic variants correlated with disease development, through a GWAS study. This task will be carried out by analyzing the frequency of the identified polymorphisms in patients and controls
Measured: 5 years
Methylation in Erdheim-Chester disease
To identify differences in gene methylation between patients with ECD and healthy controls, through an EWAS study. This task will be carried out by analyzing the grade of methylation in patients and controls
Measured: 5 years
Gene expression in Erdheim-Chester disease
To investigate the correlation between genetic variants or epigenetic profiles associated with the disease (previous outcomes) and specific clinical manifestations (organ involvement, somatic mutations, response to treatment, survival)
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 posted27 Mar 2024
- Study start17 Jul 2019
- Primary completion1 Jul 2024 (estimated)
- Study completion1 Oct 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Erdheim-Chester DiseaseStudies 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Augusto Vaglio
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Augusto Vaglio, Meyer Children's Hospital IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06332183
- Sponsor's protocol ID
- ECDGWAS
- Status last verified
- Mar 2024
- First submitted
- 21 Feb 2024
- Last updated
- 27 Mar 2024
- 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 27 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genome-wide Association Study (GWAS) and Epigenome-wide Association Study (EWAS) in Patients With Erdheim-Chester Disease
- ClinicalTrials.gov ID
- NCT06332183
- Acronym / sponsor ID
- ECDGWAS
- Conditions
- Erdheim-Chester Disease
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- Augusto VaglioUniversity, hospital or other
- Study start
- 17 Jul 2019 (actual)
- Primary completion
- 1 Jul 2024 (estimated)
- Study completion
- 1 Oct 2024 (estimated)
- First posted
- 27 Mar 2024 (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 histiocytosis characterized by the proliferation of blood cells, known as histiocytes, which infiltrate various organs and tissues, often causing irreversible damage. The causes of the condition are still unknown, and although some mutations in genes involved in cell proliferation have been identified, other factors may be involved. Susceptibility to developing rare diseases like ECD is typically associated with genetic factors, including DNA polymorphisms and epigenetic modifications.
This study aims to analyze the entire genome of a large cohort of patients with ECD and healthy controls to determine whether there are polymorphisms and epigenetic variants associated with susceptibility to developing the disease. The study could thus clarify the genetic predisposition to ECD development, provide insights into disease pathogenic mechanisms, and identify proteins or cellular mechanisms potentially targeted by specific treatments.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Presence of polymorphisms | – | Genetic: Presence of polymorphismsStatistical analysis of GWAS data, Genome-wide methylation pattern analysis, Integration of GWAS data and methylation data (meQTL analysis), Pathway enrichment analysis |
Who may qualify
- Ages
- 1 year to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Incident and prevalent patients with ECD
Key inclusion criteria (1 listed)
- ECD with histological confirmation of disease
Key exclusion criteria (1 listed)
- previously treated patients (for methylation and gene expression)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Presence of polymorphismsStatistical analysis of GWAS data, Genome-wide methylation pattern analysis, Integration of GWAS data and methylation data (meQTL analysis), Pathway enrichment analysis | Genetic | Presence of polymorphisms |
Primary outcome
Polymorphisms and genetic variants correlated with disease development
Time frame: 5 years
To investigate the presence of polymorphisms and genetic variants correlated with disease development, through a GWAS study. This task will be carried out by analyzing the frequency of the identified polymorphisms in patients and controls
Methylation in Erdheim-Chester disease
Time frame: 5 years
To identify differences in gene methylation between patients with ECD and healthy controls, through an EWAS study. This task will be carried out by analyzing the grade of methylation in patients and controls
Gene expression in Erdheim-Chester disease
Time frame: 5 years
To investigate the correlation between genetic variants or epigenetic profiles associated with the disease (previous outcomes) and specific clinical manifestations (organ involvement, somatic mutations, response to treatment, survival)
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Mar 2024.
- Individual participant dataSharing planned: No
Related trials for Erdheim-Chester Disease
RecruitingObservational study
Registry for Patients With Erdheim-Chester Disease and Other Histiocytoses
Erdheim-Chester Disease
RecruitingPhase 2
Cobimetinib in Refractory Langerhans Cell Histiocytosis (LCH), and Other Histiocytic Disorders
Langerhan's Cell Histiocytosis, Juvenile Xanthogranuloma
RecruitingPhase 2/3
DETERMINE Trial Treatment Arm 07: Dabrafenib in Combination With Trametinib in Adult, Paediatric and Teenage/Young Adult Patients With BRAF V600 Mutation-Positive Cancers.
Haematological Malignancy, Malignant Neoplasm
Active, not recruitingPhase 2
Lenalidomide for Adult Histiocyte Disorders
Langerhans Cell Histiocytosis (LCH), Histiocytoses Erdheim-chester Disease
RecruitingObservational study
Supportive Care Needs of Caregivers of People With Erdheim-Chester Disease and Other Histiocytic Diseases
Supportive Care Needs of Caregivers
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. This study is not recruiting at the moment.
5 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Erdheim-Chester Disease, run by Augusto Vaglio at 5 sites in 3 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 1 inclusion and 1 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: status not confirmed, as of the sponsor's last update on 27 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in Italy, France, Spain. 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Augusto Vaglio (3200026532, augusto.vaglio@meyer.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Polymorphisms and genetic variants correlated with disease development (time frame: 5 years). The study lists 3 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 27 Mar 2024.