Precision Pharmacogenetics and Genotype Class Based Prediction of Mavacamten Response in Obstructive Hypertrophic Cardiomyopathy
This research wants to understand why a heart medicine called mavacamten helps some people with hypertrophic cardiomyopathy (HCM), a condition where the heart muscle thickens, more than others. We think the answer might be found in people's genes. Two main things are being explored: Firstly, does the specific type of gene responsible for your HCM change how effective mavacamten is? Secondly, we're looking at a gene called CYP2C19. This gene helps your body process medicines. We want to see if your natural processing speed (slow, normal, or fast) impacts how well mavacamten works. The study will also search for rare gene differences that standard tests might miss, helping us to give more tailored care in the future.
At a glance
What is this study about?
This study, called PRO-Gene Mava, is looking into why a heart medicine called mavacamten works differently for people with a condition called hypertrophic cardiomyopathy, or HCM. HCM causes the heart muscle to become unusually thick, which can make it harder for the heart to pump blood effectively. Mavacamten is a new medicine that helps to relax the heart muscle and make it easier for blood to flow.
We've noticed that while mavacamten can be very helpful, it doesn't work exactly the same way for everyone. We believe that a person's genes might play a big part in this difference. We're focusing on two main areas: first, the specific gene that caused your HCM – as there are different types. We want to see if certain types of HCM genes respond better to mavacamten than others. Second, we're looking at a separate gene called CYP2C19. This gene is really important because it helps your body break down and use many medicines, including mavacamten. Everyone has a slightly different version of this gene, meaning some people process medicines quickly, others normally, and some more slowly.
By carefully studying these genetic differences alongside how well people respond to mavacamten, we hope to gain a much better understanding of how to use this medicine most effectively. Our goal is to find ways to predict which patients will benefit most and to eventually tailor treatments more personally in the future, ensuring everyone gets the best possible care for their HCM.
Key takeaways
- Understanding why mavacamten works differently for people with HCM.
- Looking at how your HCM-causing genes affect treatment response.
- Investigating how your body's ability to process medicines (CYP2C19 gene) impacts mavacamten's effectiveness.
- Hoping to provide more personalised and effective treatments in the future.
- This is an observational study using routine medical information, not testing a new drug.
- Participation involves no extra medication or changes to your current treatment plan.
Who may be eligible?
This study is looking for adults aged 18 or older who have been diagnosed with a specific type of heart thickening called obstructive hypertrophic cardiomyopathy (oHCM). Importantly, your heart condition shouldn't be mainly caused by other factors like very high blood pressure or problems with your heart valves.
You wouldn't be able to join if your heart thickening is due to other conditions that look similar to HCM, such as amyloidosis or Fabry's disease. Also, if you've recently had a procedure to reduce your heart muscle (called septal reduction therapy) within the last six months, you wouldn't be eligible.
Finally, if you have any known reasons why you shouldn't take mavacamten (for example, if your heart's pumping action is already very weak, if you are pregnant, or if you have uncontrolled heart failure), you would not be able to participate in this study.
- Are you 18 years old or older?
- Have you been diagnosed with obstructive hypertrophic cardiomyopathy (oHCM)?
- Is your HCM not mainly caused by other conditions like very high blood pressure or valve problems?
- Have you NOT had heart muscle reduction surgery in the last 6 months?
- Do you have no medical reasons preventing you from taking mavacamten (e.g., very weak heart, pregnancy)?
This is a guide only — the research team will confirm whether you can take part.
What does participation involve?
This is an observational study, which means you won't be given any new treatments or medicines specifically for the research. Instead, the study team will collect information from your regular medical visits and tests that you would normally have as part of your care for hypertrophic cardiomyopathy. They will also collect a sample for genetic testing. This might involve blood collection. The study aims to look at your medical records over time to see how mavacamten is working for you, how your body processes it, and how this relates to your genetic makeup. There are no extra visits or procedures required for this specific research study beyond your usual care, and the total duration would depend on how long you would typically have follow-up appointments for your condition.
Potential risks and benefits
Locations (1)
- Manchester Centre for Genomic Medicine (MCGM)Multiple Locations, United Kingdom
Common questions
What is hypertrophic cardiomyopathy (HCM)?
HCM is a condition where the heart muscle becomes unusually thick. This can make it harder for your heart to pump blood effectively.
What is mavacamten?
Mavacamten is a medicine approved to help people with HCM. It works by relaxing the heart muscle, making it easier for blood to flow.
Why is this study looking at genes?
We believe that differences in people's genes might explain why mavacamten works better for some individuals than others. Understanding this could lead to more personalised treatment.
Do I have to change my medicines or treatment if I join?
No, this is an 'observational' study. You will continue to receive your usual medical care and medicines, including mavacamten, as prescribed by your doctor.
Will my genetic information be kept private?
Yes, all your personal and genetic information will be treated with the strictest confidence and anonymity, as with all medical research.
How to find out more
Wei Jun How
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
Discussion
Community discussion
Powered by our forum at community.patient.info. Please be respectful — this is not medical advice.