A common cardiac drug called valsartan has shown positive results in those who carry the gene for hypertrophic cardiomyopathy but who do not have overt disease.
As reported by Dr. Carolyn Ho of Brigham and Women’s Hospital and Harvard Medical School at the online European Society of Cardiology meeting, the Phase 2 double blind VANISH trial looked at 178 pre-symptomatic young people who carried a sarcomere gene mutation known to cause HCM. These patients were randomly assigned to take either valsartan, an angiotensin II receptor blocker (ARB), or a placebo.
At the time of trial enrollment, these patients showed no or only mild signs of the disease. At the end of the two year trial, the individuals who took valsartan had a better overall cardiac picture compared to the group taking only the placebo.
Dr. Ho had this to say in a story about the trial results in Mirage News:
“Valsartan improved cardiac structure/function and remodeling in patients with early stage sarcomeric HCM, suggesting that this strategy may help prevent disease progression among those who have received a genetic diagnosis of HCM.”
“Our results suggest that valsartan may not only stabilize disease progression but may also promote improvement.”
You can also read this summary of the presentation on MedPage Today.
A study by researchers from Mayo Clinic recently published in the International Journal of Cardiology found that a deep learning artificial intelligence algorithm using a standard 12 lead electrocardiogram was able to detect hypertrophic cardiomyopathy in young people with impressive accuracy. This accuracy was particularly strong among adolescents aged 15 – 18.
Mayo has been looking at artificial intelligence for its potential to screen populations for HCM for some time now. Here is a previous HCMBeat story about Mayo’s work on artificial intelligence from February 2020.
The July edition of the the American College of Cardiology’s magazine features a cover story about HCM.
The article surveys the history of HCM and then moves through the evolution into contemporary treatments. The article also contains a summary of important topics from the new 2020 AHA/ACC Guidelines and highlights EXPLORER-HCM, the recent groundbreaking clinical trial of mavacamten.
Check it out when you can.
Many HCM patients, perhaps even the majority, are currently unable to identify the specific gene behind their HCM through genetic testing. Despite this obvious difference, family screening, risk stratification and treatment standards are no different for patients who carry a HCM gene and those who do not have identified gene(s).
A recent article published in Circulation suggests that there ARE differences which should result in different treatment for this subset of patients.
In particular, non-sarcomere positive patients:
- have a better prognosis, with lower rates of heart failure, sudden death, atrial fibrillation and stroke
- Have lower incidence of family members affected by the disease
- Are more likely to have additional medical conditions such as obesity, hypertension and diabetes
The article by Dr. Hugh Watkins, a British HCM and genetic expert, suggests that:
- the risk to first degree relatives of this type of HCM patient is less than 50% and therefore, there is less need for repeated screening of relatives
- Hypertension should be treated more aggressively in these patients.
Read more about non-genetic HCM here and more about screening these patients here on HCMBeat.
Today it has been 15 years since my septal myectomy at Mayo Clinic!
It’s hard to believe, and lots has happened since my open heart surgery, but I wanted to post today to let everyone know that it was totally worth it. The best decision I ever made. I have been working full time since the surgery, have been working on this blog and have a busy life as a wife, mother and daughter.
Of course the COVID pandemic has been challenging for all of us, but I am grateful for the blessing of the great medical care that has allowed me to continue living my best possible life, even if it is currently limited by the circumstances.
Meanwhile, wishing you all good health!
Watch the video or read the transcript of Dr. Steve Ommen’s recent interview on Medscape.
In this interview, he discusses the recent AHA/ACC treatment guidelines for hypertrophic cardiomyopathy (HCM), his thoughts about the new HCM drug mavacamten, and the importance of collaboration between your local care team and the team at a HCM specialty center.
Researchers in the U.K. have found that 20% of HCM gene carriers who do not show overt signs of HCM do show reduced blood flow to cardiac tissue.
Although the gene positive individuals lacked the characteristic left ventricular wall thickening of HCM, 1 of 5 patients who carried the HCM gene showed marked regional perfusion defects when compared to healthy individuals. Hence, the researchers concluded that a person who is gene positive for the disease may show reduced cardiac perfusion before they develop hypertrophy.
The study compared 50 patients who carried the HCM gene but had no signs of left ventricular hypertrophy to 28 healthy individuals. Both groups underwent Cardiac MRI testing.
The researchers theorize that perfusion mapping may be a useful way to identify HCM gene carriers who will go on to develop the disease.
To read about more early signs of HCM click here
and to read the findings of another study describing reduced cardiac volume in gene positive people, click here
A group of scientists working on gene therapy for inherited cardiomyopathies are seeking input from patients about their interest and willingness to participate in gene therapy trials. These researchers hope that treatment with gene therapy will ultimately prove to be a cure for hypertrophic cardiomyopathy as well as other genetic cardiomyopathies.
If you are interested in learning more about gene therapy and are willing to answer a few questions about your willingness to participate in this type of research, watch this video. Then, fill out this short questionnaire. It just takes a few minutes and you may help to find a cure for HCM.
The expanding field of personalized medicine has not left hypertrophic cardiomyopathy behind. In fact, two companies are currently developing targeted gene therapies for HCM patients. Each therapy targets a separate and distinct HCM gene mutation.
Tenaya Therapeutics, located in the San Francisco area, is developing a therapy called TN-201 which is directed at mutations in the Myosin Binding Protein C3 (MYBPC3) gene. The therapy has shown favorable results in mice. In May of this year, Tenaya received Orphan Drug Designation from the U.S Food and Drug Administration. An Orphan Drug Designation confers certain tax and economic incentives on companies developing a treatment for rare conditions.
Meanwhile, this week, Lexeo Therapeutics acquired Stelios Therapeutics, a San Diego based company developing a therapy for HCM patients with a mutation in the TNNI3 gene. These TNNI3 patients comprise somewhere between 5% and 7% of all patients with HCM, or approximately 30,000 people. The underpinnings of this research come from the University of California, San Diego.
HCMBeat will continue following these developments. It is a busy and exciting time in the treatment of HCM!
Yet another company is developing a new drug for hypertrophic cardiomyopathy, and this time, the drug is intended for non-obstructive HCM patients. The company is Imbria Pharmaceuticals, and this week they announced the randomizing of the first patient in their Phase 2 study of the drug IMB-101 in patients with non-obstructive HCM. The study, called IMPROVE-HCM, is a Phase 2 study that will look at the safety and tolerability of this drug in non-obstructed HCM patients. IMB-101 is designed to increase the efficiency of the heart’s use of energy which will be measured through cardiopulmonary exercise testing over a 12 week period.
You can read this press release and you can read more about the trial on ClinicalTrials.gov here.