Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
Recruiting
Observational Study
Myeloproliferative Disease
Germline Mutation
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 18 and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 313 (estimated)
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia · Other
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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, …
Trial Locations
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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 hematolog…
Contacts