Unveiling the Germline Predisposition to Myeloproliferative Neoplasms

Recruiting

• Conditions: Myeloproliferative Disease; Germline Mutation

• Registration Number: NCT07204392
• Lead Sponsor: Fondazione IRCCS Policlinico San Matteo di Pavia

Brief 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2022-06-27
• Status Verified: 2025-09
• Study First Submitted: 2025-09-24
• Study First Submitted QC: 2025-09-24
• Last Update Submitted: 2025-09-24
• Study First Posted: 2025-10-02
• Last Update Posted: 2025-10-02
• Primary Completion: 2030-12-31
• Study Completion: 2030-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 313

Inclusion Criteria

• A diagnosis of PV, ET, prePMF, overt PMF or MPN-U according to 2016 WHO criteria
• Characterization of the MPN driver mutation performed at any moment before enrolment
• diagnosis of MPN made when the patient was younger than 27 years old OR at least a second case of hematologic malignancies in first or second-degree relatives

Exclusion Criteria

• None

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
To identify a germline predisposition to MPN through the application of an NGS-based gene panel test in young patients.	3 years
To identify the germline genetic factors that underlie familial clustering of MPN through whole genome sequencing (WGS).	3 years

Secondary Outcome Measures

Name	Time	Method
To identify phenotype-genotype correlations: we aim to correlate the molecular data with clinical data and relevant outcomes	3 years

Trial Locations

Locations (1)

Fondazione IRCCS Policlinico San Matteo; 🇮🇹 Pavia, Lombardy, Italy