Status:

NOT_YET_RECRUITING

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

Lead Sponsor:

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Conditions:

Polycythemia Vera

Essential Thrombocythaemia

Eligibility:

All Genders

18+ years

Phase:

NA

Brief Summary

Philadelphia-negative myeloproliferative neoplasms (MPNs) occur sporadically and are due to somatic mutations in the JAK2 (Janus kinase 2), CALR (calreticulin) and MPL (thrombopoietin receptor) genes....

Eligibility Criteria

Inclusion

  • \*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

  • Patients \<18 years Patients with other hematological diagnoses; • Lack of informed consen

Key Trial Info

Start Date :

May 21 2025

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

May 1 2028

Estimated Enrollment :

496 Patients enrolled

Trial Details

Trial ID

NCT06923670

Start Date

May 21 2025

End Date

May 1 2028

Last Update

May 15 2025

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