Inherited risk factors for myeloproliferative neoplasms
Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
Fondazione IRCCS Policlinico San Matteo di Pavia · NCT07204392
This project will test whether inherited (germline) genetic changes raise the risk of myeloproliferative neoplasms in people diagnosed before age 27 or with multiple affected relatives.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 313 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Fondazione IRCCS Policlinico San Matteo di Pavia (other) |
| Locations | 1 site (Pavia, Lombardy) |
| Trial ID | NCT07204392 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: People with PV, ET, prePMF, overt PMF, or MPN-U who were diagnosed before age 27 or who have at least one first- or second-degree relative with a hematologic malignancy, and who have prior somatic driver mutation testing, are ideal candidates.
Not a fit: Patients without the early-age diagnosis or relevant family history, or those unwilling to provide germline samples, are unlikely to benefit from this protocol.
Why it matters
Potential benefit: If successful, the work could identify inherited genetic markers that help predict who is at higher risk, enabling earlier monitoring and targeted genetic counseling.
How similar studies have performed: Previous work has documented common polymorphisms and familial clustering that suggest inherited risk, but comprehensive germline sequencing in selected MPN families is still relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Pavia, Lombardy
- Fondazione IRCCS Policlinico San Matteo — Pavia, Lombardy, Italy (RECRUITING)
Study contacts
- Study coordinator: Elisa Rumi
- Email: e.rumi@smatteo.pv.it
- Phone: 0382-503084
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Myeloproliferative Disease, Germline Mutation