This research study, aims to understand why a specific heart medication called mavacamten works better for some people with hypertrophic cardiomyopathy (HCM) than for others. We believe the answer might be in our genes.
The study focuses on two key areas:
1. The specific gene causing HCM:The study will investigate whether the type of gene causing the condition in a person influences how well mavacamten works for them. 2. Each individual carry a certain gene that helps metabolise and process medication (otherwise known as pharmacogenetics). Our research will closely examine a gene called CYP2C19 to see if a person's natural processing speed (slow, normal, or fast) affects the medicine's performance. The study will also look for rare genetic variations that standard tests might miss.
Participants above the age of 18 years, with a confirmed diagnosis of oHCM, not solely explained by abnormal loading conditions (e.g. significant hypertension, valvular disease).
HCM phenocopies (e.g., amyloid, Fabry's disease)
Prior septal reduction therapy (within 6 months)
Contraindications to mavacamten (e.g., baseline LVEF < 55%, pregnancy, uncontrolled heart failure)
The study will enroll adult patients with a diagnosis of symptomatic obstructive hypertrophic cardiomyopathy (oHCM). The target population consists of individuals who are either currently receiving mavacamten as part of their standard clinical care or are candidates for initiating therapy. Participants will be recruited from the specialist Inherited Cardiac Conditions (ICC) clinic at the study site.
Cohort
Prospective
Observational study, no new intervention offered
Other interventionObservational study, no new intervention offered
Change in echocardiographic measure (LVOT gradient)
To assess the change in LVOT gradient (mmHg) following treatment with myosin inhibitors (mavacamten) according to genotype class and CYP2C19 status
Change in LVEF in response to mavacamten
Change in LVEF in response to mavacamten (%), in particular, temporary discontinuation of the medication due to significant decline in LVEF \<50%, depending on metaboliser status and genotype class
Cardiac Biomarker Response Depending on Genotype
To assess change in serum biomarkers (cardiac troponin and nT-proBNP) according to genotype class and CYP2C19 status in response to mavacamten
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This trial is not recruiting at the moment. You can still explore other options:
