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).
In particular, non-sarcomere positive patients:
The article by Dr. Hugh Watkins, a British HCM and genetic expert, suggests that:
Read more about non-genetic HCM here and more about screening these patients here on HCMBeat.
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.
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.
HCM specialists at Tufts Medical Center and Toronto General Hospital have devised a formula which they hope will help predict which HCM patients may go on to develop atrial fibrillation (“AFib”) over time. This tool can assist doctors in determining which patients are at highest risk so that these patients can be closely monitored and treated appropriately. AFib can be extremely dangerous for HCM patients since it can precipitate a stroke if not appropriately treated.
Because existing tools to predict atrial fibrillation have not proven to be accurate for HCM patients, the researchers studied 1900 HCM patients with the goal of devising a new tool to help HCM patients and their physicians learn their personal risk for AFib over a 2 and 5 year period.
Continue reading “Can This Formula Predict AFib in HCM Patients?”
According to a recent retrospective study at Oregon Health & Sciences University, appropriately selected patients 65 or older who underwent septal myectomy for obstructive hypertrophic cardiomyopathy (HOCM) have surgical outcomes similar to younger patients. Therefore, older age should NOT be an automatic disqualifier for myectomy. All potential treatments for outflow tract obstruction should be considered, with age being only one of many factors influencing the decision.
More positive data about the Bristol Myers Squibb experimental drug mavacamten was revealed at last weekend’s American College of Cardiology meeting and simultaneously published in The Lancet.
The data showed improvement in how patients felt taking the drug, as reported and quantified by the patients themselves. The clinical trial participants filled out a questionnaire called the KCCQ, or Kansas City Cardiomyopathy Questionnaire, 6 different times over the 38 weeks that the trial was ongoing.
Continue reading “More Positive Data on Mavacamten Presented at ACC Meeting”
Cynthia Burstein Waldman, HCM Patient, Founder and Editor, HCMBeat.com
A recent Chinese study found that patients with hypertrophic cardiomyopathy who also suffered from clinical depression had a higher risk of sudden cardiac death and/or heart failure.
The researchers behind this study hypothesize that psychological treatment for depression could improve clinical outcomes in these patients and they suggest that further research is warranted.
HCM Beat 