A team of international genetic researchers has just won “The Big Beat Challenge” – a grant from the British Heart Foundation of £30 million ($36 million) payable over a 5 years period to study potentially curative gene therapies to treat genetic cardiomyopathies.
Women and Babies Get HCM Too
Recent HCM research has taken a much needed pivot away from a focus on adult men to the exclusion of others. Women and babies get HCM too, yet until this point, there has been far less attention and research on their issues. HCM is not just a disease of adult men, though they do make up the majority of participants in research studies which inform current treatment protocols.
Finally that may be changing. It seems that people are finally starting to pay some attention to other folks who have HCM. Here is a recent European article looking at HCM in infants and here is a recent article looking at HCM in women.
Let’s hope the trend continues since previous research has shown that HCM is often more severe in these two groups.
This past article on HCMBeat takes a look at the more severe clinical course of HCM in women while this past article discusses the severity of HCM in children.
Scientists Seeking Patient Input: Gene Therapy to Treat Inherited Cardiomyopathies
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.
More HCM Research is Needed
A recent study in Europe found that HCM patients’ risk of death continues to exceed the risk in the general population.
This study looked at 4893 patients with hypertrophic cardiomyopathy treated at 7 different European HCM centers between 1980 and 2013. Although the statistics improved for those who were treated more recently, this study makes it clear that there is still much room for improvement in risk stratification and treatment for patients with HCM.
MyoKardia and 23andMe Create Online HCM Community
MyoKardia is collaborating with 23andMe, a genetic testing company which provides ancestry and health information directly to consumers, to create an online patient community intended to advance research efforts related to hypertrophic cardiomyopathy. The companies plan to allow 23andMe customers access to the latest information about HCM, as well as the opportunity to participate in research.
The companies will use a custom designed survey to collect baseline and follow-up data from HCM patients. They are hopeful that this collaboration will yield unique insights into HCM.
Research findings gained through the collaboration will be shared with HCM patients through the 23andMe platform. Currently more than 6,000 HCM patients are customers of 23andMe
More details of the collaboration can be found:
Press release from MyoKardia and 23andMe
DISCLOSURES: HCMBeat has received unrestricted educational grants from MyoKardia. Additionally, Cynthia Burstein Waldman of HCMBeat serves as a Patient Advisor on the Steering Committee for MyoKardia’s Explorer trial.
Duchess Kate’s Sister, Pippa, Supports British HCM Charity
Pippa Middleton, who came to the public’s attention during the wedding of her sister Katherine to Prince William, has recently dedicated her efforts toward raising money for HCM genetic testing and research. Middleton’s efforts are in honor of her late friend Miles Frost, who was lost to sudden cardiac arrest due to HCM in 2015. Frost’s father, British journalist and media personality David Frost, died from HCM just two years earlier in 2013, but this information was never communicated to the family.
The Miles Frost Fund, a partnership with the British Heart Foundation , helps families who have lost a member to a sudden death obtain genetic testing in order to learn if other family members are similarly affected. The Frost Fund also funds research by U.K.researchers working towards finding a cure for HCM.
Sci-Fi or Reality? ICDs Using Light
Could your next implantable defibrillator use a light beam instead of electricity to restore a normal heart rhythm? According to a recent study, this might just become reality some day.
A recent study published in the Journal of Clinical Investigation was able to use optogenetics — which involves embedding light-sensitive proteins in living tissue — to terminate ventricular arrhythmias in the hearts of mice. Scientists at Johns Hopkins then created a computer simulation of the human heart to figure out if this technology could work on humans as well.
Check out this video for interviews with the researchers and further explanations of the study. Though still highly experimental, this could be the technology of the future.
Ten Years After Myectomy
On August 11, 2016, I celebrated the ten year anniversary of the myectomy I had at Mayo Clinic in Rochester, MN. To commemorate the auspicious occasion, for the first time in many years, I wrote a blog entry on my old blog, Cynthia’s Summer Adventure. I created Cynthia’s Summer Adventure so that my friends and family could follow my progress during surgery and also, so that other HCM patients would have an opportunity to see what it was like to go through the myectomy process at Mayo Clinic.
This week I opened my mail, and between the many envelopes containing bills and the ever present promotional leaflets from local realtors, I found a large envelope from Mayo Clinic. This envelope contained a survey for me to fill out with a bunch of questions about my heart condition. All of the questions in the survey are specifically targeted at patients with Hypertrophic Cardiomyopathy. The survey asked me how I am feeling now, what medications I am currently taking and whether I have had other cardiac complications or procedures in the ten years following my myectomy surgery.
Ten years after I had my open heart surgery, I am so glad that I chose Mayo so that I am able to participate in and benefit from all of the meaningful research they are doing on the condition. This research will continue to benefit my descendants and relatives in the hope that some day, HCM will no longer be part of our lexicon.
Do Elite Athletes Provide Clues About HCM?
During the Olympics we all gather around our television sets to watch the best athletes in the world compete against each other and we wonder how it is that they can humanly perform at such a high level?
This feature story about Stanford HCM Clinic’s Dr. Euan Ashley provides us with an interesting overview of the research Dr. Ashley is doing on high performance elite athletes with the hope that their genes may provide clues that will one day help to help treat those of us with HCM and other genetic heart conditions.