Investigating BRAF Mosaicism in Erdheim-Chester Disease
Subtypes and Prognostic Factors in Erdheim-Chester Disease
NA · Meyer Children's Hospital IRCCS · NCT06317246
This study is trying to see if a specific genetic change called BRAF mosaicism is present in adults and children with Erdheim-Chester Disease to help understand the condition better and improve treatment options.
Quick facts
| Phase | NA |
|---|---|
| Study type | Interventional |
| Enrollment | 70 (estimated) |
| Ages | 1 Year to 65 Years |
| Sex | All |
| Sponsor | Meyer Children's Hospital IRCCS (other) |
| Locations | 2 sites (Florence, Firenze and 1 other locations) |
| Trial ID | NCT06317246 on ClinicalTrials.gov |
What this trial studies
This study focuses on Erdheim-Chester Disease (ECD), a rare histiocytic disorder characterized by the infiltration of histiocytes into various organs. It aims to investigate the presence of BRAF mosaicism in patients with ECD, which may provide insights into the disease's pathology and potential treatment responses. The study will include both adult and pediatric patients with a confirmed diagnosis of ECD, gathering clinical and imaging data to better understand the disease's characteristics and outcomes. By analyzing these factors, the research seeks to fill the gaps in knowledge regarding ECD and its treatment.
Who should consider this trial
Good fit: Ideal candidates include adults and children with a histologically confirmed diagnosis of Erdheim-Chester Disease.
Not a fit: Patients without available clinical and imaging data or those unable to provide histological samples may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of Erdheim-Chester Disease, potentially guiding more effective therapies.
How similar studies have performed: While there is limited data on similar studies specifically addressing BRAF mosaicism in ECD, the investigation of genetic factors in rare diseases is a growing area of research.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Prevalent and incident patients (adults and pediatric), with histologically confirmed diagnosis of Erdheim-Chester Disease according to the latest diagnostic recommendations; * Signing of informed consent for study participation. Exclusion Criteria: * Patients for whom clinical and imaging data are not available and for whom it is not possible to retrieve histological samples."
Where this trial is running
Florence, Firenze and 1 other locations
- Meyer Children's Hospital IRCCS — Florence, Firenze, Italy (RECRUITING)
- AOU Parma — Parma, Italy (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.
Conditions: Erdheim-Chester Disease