Emerging treatments
Research into genotype-phenotype correlation
Studies are ongoing to identify other disease-causing mutations and disease-modifying factors for HCM. This research may serve by improving genotype-phenotype correlations and prognosis or may aid in the discovery of therapies that can prevent or alter disease progression in gene-positive individuals. A small study found that preclinical sarcomere mutations were associated with more prominently abnormal left ventricular relaxation, ECG changes, mitral leaflet length, and serum pro-B-type natriuretic peptide concentrations in people who went on to develop HCM.[102] Another study found that patients with diagnosed HCM and mutations in the MYBPC3 gene, which encodes cardiac myosin binding protein C, were more likely to have impaired ventricular function and were possibly more prone to arrhythmic events than those without MYBPC3 mutations.[103]
Aficamten
Aficamten is a next-in-class cardiac myosin inhibitor with a shorter half-life than mavacamten.[104] In a phase 2 clinical trial, high‐dose aficamten was generally well tolerated and was associated with a 93% response rate (defined as a final resting left ventricular outflow tract [LVOT] gradient ≤30 mmHg and Valsalva LVOT gradient ≤50 mmHg) compared to 8% with placebo.[105] Additional trials investigating the long-term safety and tolerability of aficamten, as well as its efficacy in patients with obstructive HCM, are ongoing. The Food and Drug Administration has granted breakthrough therapy and orphan drug designation to aficamten for patients with obstructive HCM.
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