Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Myeloproliferative Disease, Germline Mutation. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- To identify a germline predisposition to MPN through the application of an NGS-based gene panel test in young patients. [Time frame: 3 years]
- To identify the germline genetic factors that underlie familial clustering of MPN through whole genome sequencing (WGS). [Time frame: 3 years]
Secondary outcome measures (1)
- To identify phenotype-genotype correlations: we aim to correlate the molecular data with clinical data and relevant outcomes [Time frame: 3 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
Italy · 1 center
- Fondazione IRCCS Policlinico San Matteo — Pavia
Identifiers
NCT: NCT07204392 · U27_MPN