Actively Recruiting
Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
Led by Fondazione IRCCS Policlinico San Matteo di Pavia · Updated on 2025-10-02
313
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
The trial investigates the germline genetic factors that may predispose individuals to classic Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), a group of blood disorders caused by abnormal JAK/STAT signaling due to acquired mutations. Researchers aim to better understand how inherited genetic variations contribute to the development of these diseases, including familial clustering and multiple clones in some patients. This observational study is sponsored by Fondazione IRCCS Policlinico San Matteo di Pavia. Participants with diagnosed MPN, such as polycythemia vera, essential thrombocythemia, pre-primary myelofibrosis, overt primary myelofibrosis, or unclassifiable MPN, will be observed. The study will apply next-generation sequencing (NGS) gene panel tests and whole genome sequencing (WGS) to identify germline predisposition and genetic factors underlying familial cases. The research will also correlate molecular findings with clinical profiles and patient outcomes over a three-year period. Throughout the study, participants will have their genetic data analyzed and linked with their clinical information. No treatment is administered, as this is an observational study focusing on genetic and clinical data collection. The main outcomes include identifying germline predispositions to MPN and understanding genotype-phenotype relationships. The study will last approximately three years, with continuous data monitoring and analysis during this period.
CONDITIONS
Brief Title
Unveiling the Germline Predisposition to Myeloproliferative Neoplasms
Who Can Participate
Eligibility Criteria
You may qualify if you...
- A diagnosis of polycythemia vera (PV), essential thrombocythemia (ET), pre-primary myelofibrosis (prePMF), overt primary myelofibrosis (overt PMF), or myeloproliferative neoplasm unclassifiable (MPN-U) according to 2016 WHO criteria
- Molecular characterization of the MPN driver mutation performed at any time before enrollment
- 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
- Age 18 years or older
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
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Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 3 years
Participants undergo genetic testing including NGS-based gene panel tests and whole genome sequencing to identify germline predispositions to myeloproliferative neoplasms.
Periodic visits as needed for genetic testing and sample collection
Duration - Up to 3 years
Participants are monitored over time to correlate genetic findings with clinical outcomes and disease progression.
Follow-up visits scheduled according to clinical needs
Trial Site Locations
Total: 1 location
1
Fondazione IRCCS Policlinico San Matteo
Pavia, Lombardy, Italy, 27100
Actively Recruiting
Research Team
E
Elisa Rumi
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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