Actively Recruiting
Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
Led by Fondazione IRCCS Policlinico San Matteo di Pavia · Updated on 2025-10-02
313
Participants Needed
1
Research Sites
444 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosed with polycythemia vera, essential thrombocythemia, pre-primary myelofibrosis, overt primary myelofibrosis, or unclassifiable myeloproliferative neoplasm according to 2016 WHO criteria
- MPN driver mutation characterization performed before enrollment
- MPN diagnosis made when younger than 27 years old or at least one first or second-degree relative with hematologic malignancy
You will not qualify if you...
- None
AI-Screening
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Trial Site Locations
Total: 1 location
1
Fondazione IRCCS Policlinico San Matteo
Pavia, Lombardy, Italy, 27100
Actively Recruiting
Research Team
E
Elisa Rumi
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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