Health TrialsbyHealthPanel

Unveiling the Germline Predisposition to Myeloproliferative Neoplasms

ConditionsMyeloproliferative DiseaseGermline Mutation
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorFondazione IRCCS Policlinico San Matteo di Pavia

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

None

Trial population

patients affected with early-onset or familial myeloproliferative

Trial design

Design model

Case-only

Time perspective

Cross-sectional

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Trial outcomes

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

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Fondazione IRCCS Policlinico San Matteo di Pavia

Lead sponsor

Source ClinicalTrials.gov
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