NCT06923670Not yet recruiting
Prevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History
Source: ClinicalTrials.gov · Last updated 15 May 2025 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
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. However, data from epidemiological and family studies clearly highlight a heritable component that influences the risk of developing MPN and potentially contributes to the observed phenotypic pleiotropy. Genome-wide association studies in MPN familial clusters have identified a number of germline genetic variants associated with an increased risk of developing MPN. The strongest association discovered so far is the presence of the JAK2 46/1 haplotype and, subsequently, several studies have found additional variants in other genes, particularly in the TERT gene. The aim of the study would be to investigate the presence of germline mutations in MPN patients selected on the basis of a family history of myeloid neoplasms through the analysis of both already recognized genes and other potentially implicated ones.
- Status (registry)
- Not yet recruiting
- Study type
- Interventional
- Enrollment
- 496 (estimated)
- First submitted
- 26 Mar 2025
- Start date
- 21 May 2025
- Primary completion date
- 1 May 2028
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Diseases
- Myeloproliferative neoplasms
- NCT number
- NCT06923670
What you commit to
- Study type: Interventional
- Planned participants: 496
- From 21 May 2025 to the primary completion date, 1 May 2028
- No sites listed in no country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Age
- Patients \<18 years Patients with other hematological diagnoses; • Lack of informed consen
Who the study is looking for
- \*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)
Age in the registry: 18 years to - · Sex: All · Does not accept healthy volunteers
This page is information, not medical advice. Discuss any trial with your doctor.