NCT06317246

Subtypes and Prognostic Factors in Erdheim-Chester Disease

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 70 (estimated)
• Sponsor: Meyer Children's Hospital IRCCS · Academic / Other
• Sex: All
• Age: 1 Year – 65 Years
• Healthy volunteers: Not accepted

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. The causes of the pathology are still unknown. Although the disease typically affects adult individuals, cases of pediatric-onset ECD have been described. However, there is a lack of detailed information on the phenotypic characteristics of these patients, and reliable data on response to specific therapies and long-term outcomes are missing. Three patients referred to our reference center for Histiocytosis present a concomitant BRAF-mutated neoplasm. Such an association could be due to the presence of mosaicisms for the BRAF V600E mutation. Mosaicism is a biological event defined as the presence of more than one genetically dissimilar cell population in the same organism and is an increasingly studied field, both in normal and pathological conditions. If proven in ECD as well, this mechanism could contribute to providing answers to the still open questions regarding the development of this disease.

Conditions

• Erdheim-Chester Disease

Interventions

Type	Name	Description
GENETIC	Investigation of BRAF mosaicism	The study of BRAF mosaicism will be conducted on biopsy samples from patients with ECD and other neoplasms co-occurring with the BRAFV600E mutation. The samples will be labeled with anti-Pu.1-Alexa Fluor 647 antibody (which binds to macrophages), then DNA will be extracted using FACS method and amplified using MDA (Qiagen Repli-G Single-Cell kit). Quality control will be performed using Quant-it (ThermoScientific) and Agilent 4200 TapeStation. Eligible samples will undergo digital droplet PCR (ddPCR) and sequencing. ddPCR probes for wild-type and mutant alleles will be used. Sequencing will be performed using Illumina HiSeq 2500 system

Timeline

• Start date: 2020-09-15
• Primary completion: 2024-09-15
• Completion: 2024-12-15
• First posted: 2024-03-19
• Last updated: 2024-03-19

Locations

2 sites across 1 country: Italy