Mutational Analysis as a Prognostic and Predictive Marker of Cardiovascular (CVD) Disease in Patients With Myelodysplasia

Sunnybrook Health Sciences Centre

Status: Unknown

Conditions: Inflammation; MDS; Cardiovascular Diseases

Treatments: Other: Inflammatory and lipid markers; Other: Computed Tomography (CT) of the heart; Genetic: Genetic Mutations

Study type: Interventional

Funder types: Other

Identifiers

NCT04110925

MDS CVD

Details and patient eligibility

About

This study evaluates the relationship between myelodysplastic syndromes (MDS) and cardiovascular disease. MDS patients will be evaluated for the presence of mutations and whether they are associated with an increased risk of heart disease (CVD) and inflammation compared to healthy adults. Patients without symptoms of CVD will receive CT scans to assess for hidden disease and if that is related to their mutations.

Full description

Myelodysplastic syndromes (MDS) are a type of blood cancer that can cause infection or bleeding because they prevent the formation of blood components and may lead to leukemia and death. MDS can arise from changes (or mutations) to a patient's DNA. MDS patients have increased risk of heart disease compared to healthy adults. The investigators will look for links between mutations in MDS patients and increased risk of heart disease. They will also use "CT imaging" to see if MDS patients have asymptomatic artery disease but may lead to heart disease in the future and if that is related to their mutations. The researcher will try to link mutations in MDS patients to markers of inflammation and to the amount of artery disease on CT imaging to look for patterns. The goal is to find certain mutations that are associated with inflammation and heart disease. This may ultimately allow hematologists to test MDS patients with these mutations for heart disease and/or treat them early so they have a better and longer life.

Enrollment: 400 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Diagnosis of: myelodysplastic syndrome (MDS), myeloproliferative neoplasm (MPN), Chronic myelomonocytic leukemia leukemia (CMML), or low-blast acute myeloid leukemia (AML, blasts 20-29%) less than 24 months ago
• Alive and registered in the MDS-Canada (MDS-CAN) database
• Known comorbidity history and known history of cardiovascular disease
• Able to provide peripheral blood sample for cytokine analysis
• Able top provide samples for next generation sequencing (NGS) - if diagnosis 0-6 months ago: peripheral blood; if diagnosis 6-24 months ago: diagnostic bone marrow aspirate slides or peripheral blood

Exclusion criteria

• MDS/MPN patients other than CMML due to higher prevalence of Janus Kinase 2 (JAK2) mutation (a known risk factor for CVD)
• Disease progression without available diagnostic bone marrow slides for NGS

Trial design

Primary purpose: Screening

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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400 participants in 1 patient group

MDS patients

Other group

Description:

All Canadian MDS patients on the MDS-database to be included.

Treatment:

Other: Computed Tomography (CT) of the heart

Other: Inflammatory and lipid markers

Genetic: Genetic Mutations