Prevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History

Launched by FONDAZIONE POLICLINICO UNIVERSITARIO AGOSTINO GEMELLI IRCCS · Apr 4, 2025

Keywords

ClinConnect Summary

This clinical trial is looking into the genetic factors that may increase the risk of certain blood disorders called myeloproliferative neoplasms (MPNs), which include conditions like Polycythemia Vera, Essential Thrombocythemia, and Myelofibrosis. Researchers want to find out if specific inherited gene mutations play a role, especially in patients who have a family history of these blood disorders. By analyzing both known and new genes, the study aims to better understand how family backgrounds might influence the development of these conditions.

To participate in this trial, individuals must be over 18 years old and have a confirmed diagnosis of one of the MPNs mentioned. Additionally, they should have at least one relative—like a parent or sibling—who has also been diagnosed with a myeloid neoplasm. Participants will need to provide informed consent to ensure they understand the study's purpose and procedures. While the trial is not yet recruiting participants, it aims to gather valuable information that could lead to improved understanding and treatment of these blood disorders in the future.

Gender

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Eligibility criteria

• Inclusion Criteria:
• • \*Patients \>18 years
• • Diagnosis of MPN (Essential Thrombocythemia, Polycythemia Vera, Myelofibrosis) confirmed according to ICC 2022 criteria
• • Familiarity for myeloid neoplasia: at least one first or second degree relative affected by myeloid neoplasia (probands) OR presence of matching criteria with a proband (controls). Each center will be able to contribute with its own available patients/relatives, providing the clinical-laboratory data required by the study.
• • Signing of informed consent according to ICH/EU/GCP and local national laws (if applicable)
• Exclusion Criteria:
• • Patients \<18 years Patients with other hematological diagnoses; • Lack of informed consen