Clinical trial · Observational
Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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.
Conditions
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Germline Mutation | — | UNRESOLVED | — |
| Myeloproliferative Disease | Myeloproliferative Neoplasm | CURATED_BROADER | 0.80 |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (2)
- measure
- To identify a germline predisposition to MPN through the application of an NGS-based gene panel test in young patients.
- timeFrame
- 3 years
- measure
- To identify the germline genetic factors that underlie familial clustering of MPN through whole genome sequencing (WGS).
- timeFrame
- 3 years
Secondary outcomes (1)
- measure
- To identify phenotype-genotype correlations: we aim to correlate the molecular data with clinical data and relevant outcomes
- timeFrame
- 3 years
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 18 Years
Show eligibility criteria text
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
References
Publications (0)
Data not yet available