NCT07204392

Unveiling the Germline Predisposition to Myeloproliferative Neoplasms

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 313 (estimated)
• Sponsor: Fondazione IRCCS Policlinico San Matteo di Pavia · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

The classic Ph-negative myeloproliferative neoplasms (MPN) are a group of clonal hematopoietic disorders caused by a dysregulated JAK/STAT signal transduction because of acquired somatic mutations of JAK2, CALR or MPL genes. They are sporadic diseases but there are several lines of evidence that support the role of germline factors in the pathogenesis of MPN: the existence of familial clustering, the presence of more than one clone in some patients, the known existence of common polymorphisms that cause predisposition to MPN. In this study, we would like to define the germline predisposition to MPN.

Conditions

• Myeloproliferative Disease
• Germline Mutation

Timeline

• Start date: 2022-06-27
• Primary completion: 2030-12-31
• Completion: 2030-12-31
• First posted: 2025-10-02
• Last updated: 2025-10-02

Locations

1 site across 1 country: Italy