Unveiling the Germline Predisposition to Myeloproliferati... | NCT07204392

Studies
Unveiling the Germline Predisposition to Myeloproliferative Neoplasms

NCT07204392

Sponsor

Fondazione IRCCS Policlinico San Matteo di Pavia

Status

Recruiting

Last Update Posted

Oct 2, 2025Actual

Enrollment

313Estimated

Phase

Not provided

Conditions

Myeloproliferative Disease
Germline Mutation

Interventions

Not provided

Countries

Italy

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Sep 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jun 27, 2022Actual

Primary Completion Date

Dec 31, 2030Estimated

Completion Date

Dec 31, 2030Estimated

First Submitted Date

Sep 24, 2025

First Submission Date that Met QC Criteria

Sep 24, 2025

First Posted Date

Oct 2, 2025Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Sep 24, 2025

Last Update Posted Date

Oct 2, 2025Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Elisa Rumi, MD, Fondazione IRCCS Policlinico San Matteo di PaviaPrincipal Investigator

Lead Sponsor

Fondazione IRCCS Policlinico San Matteo di PaviaOTHER

Collaborators

Not provided

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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 provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

313Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

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

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

patients affected with early-onset or familial myeloproliferative

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Elisa Rumi	Contact	0382-503084		e.rumi@smatteo.pv.it

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Fondazione IRCCS Policlinico San Matteo	Recruiting	Pavia	Lombardy	27100	Italy

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D009196	Myeloproliferative Disorders

Ancestor Terms

ID	Term
D001855	Bone Marrow Diseases
D006402	Hematologic Diseases
D006425	Hemic and Lymphatic Diseases

Browse Leaves

Not provided

Browse Branches

Not provided