Precision Pharmacogenetics and Genotype Class Based Prediction of Mavacamten Response in Obstructive Hypertrophic Cardiomyopathy

NCT07408427 | Not Yet Recruiting

• 1 other identifier: 368062
• Study Type: observational
• Target: 140
• Locations: 1 country
• Sites: 1

Brief Summary

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. 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. 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.

Conditions

Hypertrophic Cardiomyopathy (HCM)

Keywords

hypertrophic cardiomyopathy; pharmacogenetics

Outcome Measures

Primary Outcomes (1)

• 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

  6 months

Secondary Outcomes (2)

• Change in LVEF in response to mavacamten

  6 months

• Cardiac Biomarker Response Depending on Genotype

  6 months

Study Arms (1)

Observational Cohort of oHCM Patients on Mavacamten

This is a single, prospective, observational cohort of adult patients with symptomatic obstructive hypertrophic cardiomyopathy (oHCM). Participants are either currently receiving or newly initiating mavacamten as part of their standard clinical care. All treatment decisions, including drug initiation, dosing, and titration, are made by the participant's treating physician and are not influenced by the study protocol. This cohort serves as the population from which clinical, pharmacological, and genomic data will be collected for analysis.

Other: Observational study, no new intervention offered

Interventions

Observational study, no new intervention offered OTHER

Observational study, no new intervention offered

Observational Cohort of oHCM Patients on Mavacamten

Eligibility Criteria

• Age: 18 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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).

You may not qualify if:

• 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)

Sponsors & Collaborators

• University of Manchester: lead

Study Sites (1)

Manchester Centre for Genomic Medicine (MCGM)

Multiple Locations, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

Saliva and/or blood sample

MeSH Terms

Conditions

Cardiomyopathy, Hypertrophic

Interventions

Observation

Condition Hierarchy (Ancestors)

Cardiomyopathies; Heart Diseases; Cardiovascular Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases

Intervention Hierarchy (Ancestors)

Methods; Investigative Techniques

Central Study Contacts

Wei Jun How

CONTACT

+441619987070; weijun.how@manchester.ac.uk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Cardiologist

Study Record Dates

• First Submitted: February 6, 2026
• First Posted: February 13, 2026
• Study Start: June 1, 2026
• Primary Completion (Estimated): June 1, 2029
• Study Completion (Estimated): December 1, 2029
• Last Updated: February 13, 2026

Record last verified: 2026-02

Locations

GB (1)