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Clinical Trials in Italy / NCT07204392
Recruiting Observational

Unveiling the Germline Predisposition to Myeloproliferative Neoplasms

NCT07204392 · tracked via the Priya Life Science Italy tracker
Sponsor
Fondazione IRCCS Policlinico San Matteo di Pavia
Phase
Observational
Started
2022-06-27
Last updated
2025-10-02

Condition(s) studied

Myeloproliferative DiseaseGermline Mutation

Study 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.

Eligibility

Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
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

Primary outcome measure(s)

Trial sites (1)

FacilityCityRegionStatus
Fondazione IRCCS Policlinico San Matteo Pavia Lombardy Recruiting

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Other trials for the same condition

ENERGIA: Personalized Exercise Program for Fatigue in Patients With Myeloproliferative Neoplasms and Chronic Myeloid Leukemia Starting soon
Evaluation of Inflammatory Markers in ph Negative Myeloproliferative Neoplasms: Impact on Outcome and Response to Therapy. Multicenter Retro-prospective Observational Study. The INFLA-ME (INFLAmmation in Myeloproliferative Disease) Study. Recruiting
Autoantibodies Against Type I Interferon in Patients Affected With Ph-negative Myeloproliferative Neoplasms (MPN-IFN Study) Active, not recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07204392 on ClinicalTrials.gov ↗ ← All trials in Italy