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NCT Number: NCT07204392

Unveiling the Germline Predisposition to Myeloproliferative Neoplasms

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.

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Key information

Conditions

Myeloproliferative Disease Bone Marrow Diseases Germline Mutation Hematologic Diseases Hemic and Lymphatic Diseases Myeloproliferative Disorders

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Fondazione IRCCS Policlinico San Matteo

Pavia, Lombardy, 27100, Italy

Location status: Recruiting

Location contact

Elisa Rumi

CONTACT

[email protected]

0382-503084

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. To identify a germline predisposition to MPN through the application of an NGS-based gene panel test in young patients.

    Time frame: 3 years

  2. To identify the germline genetic factors that underlie familial clustering of MPN through whole genome sequencing (WGS).

    Time frame: 3 years

Secondary outcomes

  1. To identify phenotype-genotype correlations: we aim to correlate the molecular data with clinical data and relevant outcomes

    Time frame: 3 years

Study contacts

Contact information is provided by the study sponsor or research team.

Elisa Rumi

CONTACT

[email protected]

0382-503084

Sponsors and collaborators

Lead sponsor

Fondazione IRCCS Policlinico San Matteo di Pavia

Other

Registry information

Important dates

Study start
2022
Primary completion
2030
Study completion
2030
First posted
Oct 2, 2025
Registry last updated
Oct 2, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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