Inherited risk factors for myeloproliferative neoplasms

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study at Fondazione IRCCS Policlinico San Matteo will collect germline DNA from patients with classical Ph-negative MPNs (PV, ET, prePMF, overt PMF, MPN-U) who were diagnosed under age 27 or who have at least one other first- or second-degree relative with a hematologic malignancy. Participants must have prior characterization of their somatic driver mutation (JAK2, CALR, MPL). Researchers will perform germline genetic analyses, including sequencing and comparison with population databases, to identify variants that predispose to MPN. No treatments are given as part of the protocol; results aim to clarify inherited risk and inform future genetic counseling and screening strategies.

Why it matters

Who can join: the full rules

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

Where it's running

• Fondazione IRCCS Policlinico San Matteo
  Pavia, Lombardy, Italy Recruiting

Study contacts

• Study coordinator: Elisa Rumi
• Email: e.rumi@smatteo.pv.it
• Phone: 0382-503084

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.