Subtypes and Prognostic Factors in Erdheim-Chester Disease

Launched by MEYER CHILDREN'S HOSPITAL IRCCS · Mar 11, 2024

Keywords

ClinConnect Summary

This clinical trial is focused on understanding Erdheim-Chester Disease (ECD), a rare condition where certain blood cells, called histiocytes, grow out of control and invade different parts of the body, which can lead to serious health problems. The trial aims to gather more information about the characteristics of ECD, especially in children, and how patients respond to various treatments. Researchers are particularly interested in a possible link between ECD and a specific genetic change known as the BRAF mutation, which might help explain how this disease develops.

To participate in this study, individuals of all ages with a confirmed diagnosis of Erdheim-Chester Disease are eligible, including both adults and children. Participants will need to provide consent to join the study. Those who are currently unable to provide clinical details or tissue samples for testing will not be included. If you decide to participate, you can expect to contribute to important research that could improve understanding of ECD and potentially lead to better treatments in the future.

Gender

ALL

Eligibility 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."