Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
1 other identifier
observational
313
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jun 2022
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
June 27, 2022
CompletedFirst Submitted
Initial submission to the registry
September 24, 2025
CompletedFirst Posted
Study publicly available on registry
October 2, 2025
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 31, 2030
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 31, 2030
October 2, 2025
September 1, 2025
8.5 years
September 24, 2025
September 24, 2025
Conditions
Outcome Measures
Primary Outcomes (2)
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 Outcomes (1)
To identify phenotype-genotype correlations: we aim to correlate the molecular data with clinical data and relevant outcomes
3 years
Eligibility Criteria
patients affected with early-onset or familial myeloproliferative
You may qualify if:
- 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
You may not qualify if:
- None
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
Fondazione IRCCS Policlinico San Matteo
Pavia, Lombardy, 27100, Italy
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- CROSS SECTIONAL
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- MD
Study Record Dates
First Submitted
September 24, 2025
First Posted
October 2, 2025
Study Start
June 27, 2022
Primary Completion (Estimated)
December 31, 2030
Study Completion (Estimated)
December 31, 2030
Last Updated
October 2, 2025
Record last verified: 2025-09
Data Sharing
- IPD Sharing
- Will not share