Analyzing genetic factors in Erdheim-Chester Disease
Genome-wide Association Study (GWAS) and Epigenome-wide Association Study (EWAS) in Patients With Erdheim-Chester Disease
This study is trying to find out if certain genes and changes in DNA can help explain why some people get Erdheim-Chester Disease, hoping to uncover new ways to treat it.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Ages | 1 Year to 99 Years |
| Sex | All |
| Sponsor | Meyer Children's Hospital IRCCS Academic / other |
| Locations | 5 sites (Paris and 4 other locations) |
| Trial ID | NCT06332183 on ClinicalTrials.gov |
What this trial studies
This observational study investigates the genetic and epigenetic factors associated with Erdheim-Chester Disease (ECD) by analyzing the genomes of a large cohort of patients diagnosed with ECD alongside healthy controls. The research aims to identify specific DNA polymorphisms and epigenetic modifications that may contribute to the susceptibility of developing ECD. By understanding these genetic predispositions, the study seeks to shed light on the pathogenic mechanisms of the disease and potentially identify targets for future treatments.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals with histologically confirmed Erdheim-Chester Disease.
Not a fit: Patients who have previously received treatment for ECD may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding of Erdheim-Chester Disease and pave the way for targeted therapies.
How similar studies have performed: While studies on genetic factors in rare diseases have shown promise, this specific approach to ECD is relatively novel and untested.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: - ECD with histological confirmation of disease Exclusion criteria: - previously treated patients (for methylation and gene expression)
Where this trial is running
Paris and 4 other locations
- Hopital Pitié Salpetrière — Paris, France (Recruiting)
- Meyer Children's Hospital IRCCS — Florence, Italy (Recruiting)
- IRCCS Ospedale San Raffaele — Milano, Italy (Recruiting)
- AOU Parma — Parma, Italy (Recruiting)
- Genetics Lab, CSIC — Granada, Spain (Recruiting)
Study contacts
- Study coordinator: Augusto Vaglio
- Email: augusto.vaglio@meyer.it
- Phone: 3200026532
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.