The Lancet SEPTEMBER 12, 2020

Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial

Olivotto I, Oreziak A, Barriales-Villa R, et al.

Bottom Line

The EXPLORER-HCM trial demonstrated that the first-in-class cardiac myosin inhibitor, mavacamten, significantly improved exercise capacity, NYHA functional class, and disease-related symptoms in patients with symptomatic obstructive hypertrophic cardiomyopathy compared to placebo.

Key Findings

1. The primary composite endpoint, defined as a peak oxygen consumption (pVO2) increase of ≥1.5 mL/kg/min with ≥1 NYHA class improvement or a pVO2 increase of ≥3.0 mL/kg/min with no worsening of NYHA class, was met by 37% of patients in the mavacamten group compared to 17% in the placebo group (P=0.0005).
2. Patients treated with mavacamten exhibited a significantly greater reduction in post-exercise left ventricular outflow tract (LVOT) gradient, with a difference of -36 mmHg (95% CI -43.2 to -28.1; P<0.0001) compared to the placebo arm.
3. A significantly higher proportion of patients in the mavacamten group achieved an improvement of at least one NYHA class (65% vs 31%; P<0.0001).
4. Improvements were observed in patient-reported health status scores, with the mavacamten group showing a mean improvement in the Kansas City Cardiomyopathy Questionnaire Clinical Summary Score of 9.1 points (95% CI 5.5 to 12.7; P<0.0001) relative to placebo.

Study Design

Design
RCT
Double-Blind
Sample
251
Patients
Duration
30 wk
Median
Setting
Multicenter, international
Population Adult patients with symptomatic (NYHA class II-III) obstructive hypertrophic cardiomyopathy and a resting or provoked LVOT gradient ≥50 mmHg.
Intervention Oral mavacamten (starting at 5 mg daily, titrated) for 30 weeks.
Comparator Placebo for 30 weeks.
Outcome Clinical response at week 30, defined as an increase in pVO2 of ≥1.5 mL/kg/min with ≥1 NYHA class improvement, OR an increase in pVO2 of ≥3.0 mL/kg/min with no worsening of NYHA class.

Study Limitations

The 30-week duration of the study, while sufficient to demonstrate physiologic and functional improvements, provides limited data on the long-term safety and efficacy of mavacamten.
The primary endpoint was a composite of functional and symptomatic measures, which, while clinical meaningful, may be subject to inherent variability in cardiopulmonary exercise testing.
The study excluded patients with severe comorbidities or those who might require immediate invasive septal reduction therapy, which could limit the generalizability to the most severe spectrum of the disease.
Potential risks of excessive myocardial suppression (reduced ejection fraction) necessitate ongoing monitoring, which requires a specific risk evaluation and mitigation strategy (REMS) in clinical practice.

Clinical Significance

Mavacamten represents the first disease-specific, targeted pharmacological intervention for obstructive hypertrophic cardiomyopathy that directly addresses the underlying pathophysiologic mechanism of cardiac hypercontractility. This therapy provides a viable medical alternative to invasive septal reduction therapies and improves quality of life for patients who are symptomatic despite conventional medical management.

Historical Context

For several decades, management of symptomatic obstructive hypertrophic cardiomyopathy relied on non-specific agents such as beta-blockers, calcium channel blockers, and disopyramide, which often offered suboptimal symptom relief and carried significant tolerability issues. EXPLORER-HCM was a landmark study that introduced the concept of myosin inhibition to precisely target the sarcomere dysfunction characteristic of the disease, marking a paradigm shift in the therapeutic landscape of HCM.

Guided Discussion

High-yield insights from every perspective

Med Student
Medical Student

How does the mechanism of action of mavacamten, a cardiac myosin inhibitor, specifically target the underlying pathophysiology of obstructive hypertrophic cardiomyopathy (oHCM) compared to traditional therapies like beta-blockers?

Key Response

Hypertrophic cardiomyopathy is characterized by hypercontractility and impaired relaxation due to an excess of myosin-actin cross-bridges in the 'on' position. Mavacamten shifts the myosin population toward a 'super-relaxed' state, reducing the number of active cross-bridges. In contrast, beta-blockers primarily address the symptoms by slowing heart rate to increase diastolic filling time and reducing the force of contraction via sympathetic blockade, but they do not directly inhibit the molecular motor protein responsible for the disease.

Resident
Resident

In a patient with symptomatic oHCM despite maximally tolerated beta-blocker therapy, what specific clinical criteria from the EXPLORER-HCM trial would make them a candidate for mavacamten therapy?

Key Response

Candidates for mavacamten in the EXPLORER-HCM trial were adults with symptomatic oHCM (NYHA class II or III) who had an LVOT gradient of 50 mmHg or more (at rest or provoked) and a left ventricular ejection fraction (LVEF) of at least 55%. Residents must also be aware that initiating mavacamten requires regular LVEF monitoring due to its potent effect on contractility, as the trial demonstrated a reversible decrease in LVEF in some participants.

Fellow
Fellow

The EXPLORER-HCM trial reported a significant reduction in NT-proBNP and high-sensitivity cardiac troponin I levels. Discuss how these biomarkers reflect the hemodynamic changes induced by mavacamten and their potential prognostic value in managing long-term remodeling.

Key Response

NT-proBNP is a marker of myocardial wall stress, while troponin reflects myocardial injury. The reduction in these markers (NT-proBNP by 80% compared to placebo) indicates that mavacamten effectively relieves the LVOT gradient and reduces intra-cardiac pressures. For the subspecialist, this suggests that the drug may not just provide symptomatic relief but could potentially mitigate the long-term adverse remodeling that leads to heart failure and arrhythmias in HCM patients.

Attending
Attending

Mavacamten is subject to a Risk Evaluation and Mitigation Strategy (REMS) program. Given the EXPLORER-HCM safety data, how do you approach the conversation with a patient regarding the 'trade-off' between symptomatic improvement and the risk of developing heart failure with a reduced ejection fraction?

Key Response

In the trial, 7% of the mavacamten group experienced an LVEF drop to below 50%, which was reversible upon drug discontinuation. The 'wise' clinical approach involves educating patients on the necessity of strict echocardiographic monitoring every 4 to 12 weeks. The attending must weigh the 'procedural' risk of septal reduction therapy (myectomy/alcohol ablation) against the 'pharmacological' risk of reversible systolic dysfunction and the logistical burden of the REMS program.

Scholarly Review

Critical appraisal through the lens of expert reviewers and guideline development

PhD
PhD

Critique the use of the primary composite functional endpoint in EXPLORER-HCM (improvement in pVO2 and NYHA class) versus a hard clinical outcome like cardiovascular mortality or hospitalization. How might the exclusion of patients with atrial fibrillation limit the generalizability of these statistical findings?

Key Response

Using pVO2 and NYHA class allows for a smaller sample size and shorter trial duration to show efficacy in a rare disease. However, NYHA is subjective and pVO2 changes of 1.1 mL/kg/min, while statistically significant, may have questionable clinical impact. Excluding AF patients—who represent a significant portion of the HCM population—limits the generalizability of the safety and efficacy data, as rhythm disturbances can complicate both the assessment of pVO2 and the risk profile of myosin inhibitors.

Journal Editor
Journal Editor

If you were the primary reviewer for this manuscript, how would you address the potential for unblinding due to the drug's potent effects on the LVOT gradient, and what concerns would you raise regarding the internal validity of the NYHA class assessments?

Key Response

A tough reviewer would flag that because mavacamten significantly reduces the LVOT gradient—a measurement frequently seen by the clinical staff performing echos—unblinding could occur, potentially biasing the subjective NYHA class reporting. Editors look for 'core laboratories' and blinded assessment committees to mitigate this; however, the physiological 'tell' of the drug (the gradient drop) remains a threat to the rigor of a double-blind design.

Guideline Committee
Guideline Committee

Based on the EXPLORER-HCM evidence, should mavacamten be recommended as a first-line therapy, or should it remain a Class IIa/IIb alternative to septal reduction therapy in the next update to the AHA/ACC Hypertrophic Cardiomyopathy guidelines?

Key Response

Current guidelines (2020 AHA/ACC) place beta-blockers and calcium channel blockers as first-line for symptomatic oHCM. Mavacamten provides a robust pharmacological alternative for patients who fail first-line therapy but wish to avoid or are not candidates for invasive septal reduction therapy. The committee must decide if the high cost and REMS monitoring requirements justify a Level A recommendation or if it should be reserved for those specifically 'refractory' to traditional medical therapy.

Clinical Landscape

Noteworthy Related Trials

2018

PIONEER-HCM Trial

n = 21 · J Am Coll Cardiol

Tested

Mavacamten

Population

Symptomatic obstructive HCM patients

Comparator

Open-label study (no formal placebo comparator)

Endpoint

Change in peak oxygen consumption (pVO2)

Key result: Mavacamten led to a significant reduction in post-exercise LVOT gradient and improvement in symptoms.
2020

MAVERICK-HCM Trial

n = 59 · J Am Coll Cardiol

Tested

Mavacamten

Population

Symptomatic non-obstructive HCM patients

Comparator

Placebo

Endpoint

Safety and tolerability

Key result: Mavacamten was well-tolerated and showed potential for reduction in biomarkers of wall stress in patients with non-obstructive disease.
2022

VALOR-HCM Trial

n = 112 · J Am Coll Cardiol

Tested

Mavacamten

Population

Symptomatic obstructive HCM patients eligible for septal reduction therapy

Comparator

Placebo

Endpoint

Composite of death, SRT, or eligibility for SRT at week 16

Key result: Mavacamten significantly reduced the need for septal reduction therapy compared with placebo.

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