Disclaimer: I am a selfish person. My sons Chris and Patrick died of heart failure. I agree the primary insult was pneumonia, but their hearts were broken in so many ways that they could not fight even the slightest insult. For Chris, pneumonia. For Patrick, the loss of his brother and a broken heart.

Chris and Patrick stopped walking around the age of 9. By the time they were 11 and 13 respectively, they were in heart failure. Keep in mind, my career as a nurse was in adults because, in my head, I understood that adults could become sick, really sick. I have never (ever) been able to justify children becoming sick – too high on the ‘unfair’ scale.

Our doctor at the time…well let’s just say that each time I met with him, I remembered why I vowed never to see him again. I expressed concern that Chris, especially Chris, had early signs of heart failure. He looked at me with a dismissive, irritated smirk and explained that, ‘Heart failure can occur in Duchenne, but never before the age of 18.’ I recall being angry and saying something to the effect that, ‘Ok, so the song Happy Birthday is apparently the trigger for the heart to fail?’ I left, angry with myself once again for seeing him, for giving him any credibility whatsoever.

I became the expert. Chris died soon after. I guess his heart heard someone else’s song.

It is for this reason that the heart is at the center of Duchenne for me.

I knew we had to stop hearts from breaking – both literally and figuratively – in this disease and I surrounded myself with people who felt the same. Over the last two plus decades, we have discovered exactly how critical heart health is in Duchenne.

Heart issues don’t just affect some people with Duchenne; they affect ALL people with Duchenne. While advances in respiratory care have improved respiratory outcomes, heart muscle disease (or cardiomyopathy) and heart failure remain the leading cause of death in Duchenne.

Just as there are variations in onset of skeletal muscle weakness, there are variations in the onset of cardiac muscle damage. Eventually, nearly 100% of all people with Duchenne develop cardiomyopathy and heart failure. Cardiomyopathy is also a potential risk for mothers, aunts, daughters, and granddaughters who are carriers.

PPMD has heavily invested in the pursuit of optimal care, interventions, and research pertaining to the management and prevention of cardiomyopathy. Over the past decade PPMD has invested $5 million toward our focused Cardiac Initiative.

What have we learned from our investment over time?

We have learned so much since 1994 and while there is still so much to learn, here’s a look at what we have learned so far:

• Novel treatments targeting the heart are needed and should be explored. Cardiac muscle is different from skeletal muscle and PPMD has funded and is funding research that aims to understand these differences, targets cardiac muscle specifically and explores novel therapeutic approaches that might benefit the heart.
• Drugs that target pathways for skeletal muscle may benefit the heart, furthering the need to explore therapeutic strategies aimed at improving or maintaining cardiac function. PPMD realizes that if we improve skeletal muscle, we also have to improve the cardiac muscle so that it can continue to meet the needs of a stronger, more functional body. PPMD has funded cardiac outcome measures (to detect possible improvements in heart function) in Duchenne clinical trials targeting skeletal muscle, and is funding new research that may result in novel therapies specifically targeting the heart.
• Better pre-clinical models are needed to improve drug development for cardiac benefit. Currently, there is not a model that accurately mimics human cardiac progression in Duchenne. PPMD has been funding research to help identify ways to conduct preclinical evaluation of therapies targeting the heart.
• Cardiac MRI is the best way to measure and monitor the progression of the heart. Damage to the heart occurs early on in Duchenne. PPMD convened a meeting with national cardiology experts and the National Heart Lung and Blood Institute (NHLBI) in 2014 that produced specific recommendations for cardiac evaluations to begin at diagnosis, and imaging surveillance recommendations, including annual MRI as soon as the child can complete the procedure without the need for anesthesia (echocardiograms should be completed at least annually if MRI is not the most appropriate test for the patient). The recommendations from PPMD’s meeting with NHLBI are included in the recently published 2018 Care Considerations. PPMD continues to fund the evaluation of longitudinal cardiac MRI data to understand disease progression in the heart.
• Appropriate cardiac outcome measures. Currently, there is not consensus on the most appropriate outcome measures to evaluate the impact of Duchenne therapies on the heart. PPMD will convene a series of meetings evaluating the robustness of available cardiac outcome measures and will follow regulatory pathways to incorporate appropriate outcome measures into continued and future clinical trials.
• Starting cardiac medications (ACE inhibitors or angiotensin receptor blockers) early is important for care and management with the first evidence of cardiac fibrosis and/or dysfunction, or by age 10 years if all evaluations are normal.  Beta blockers are typically added to the regimen as the heart rate increases, and remains, above 100bpm. These recommendations were also results of the PPMD convened meeting with NHLBI and are included in the 2018 Care Considerations.
• Cardiac care is variable across the country and around the world, thus the need to standardize care as much as possible. PPMD has played a pivotal role in ensuring that recommendations for cardiac surveillance and management are included in the 2018 Care Considerations. Requirements for certification as a PPMD Certified Duchenne Care Center include the provision of cardiac care in agreement with these guidelines. The Certified Duchenne Care Center Program assures families that every CDCC is providing cardiac care, as well as other subspecialty care, in agreement with the Care Considerations.
• Acute cardiac events, that include intense chest pain and elevated troponins, occur without warning. We need to understand why this happens to some patients and not others, sometimes in very young patients, and without any warning. Because there was no discussion or consensus on this phenomenon, PPMD funded a meeting of cardiologists and cardiac researchers specifically to illuminate this issue. The result of this meeting was a publication discussing acute cardiac events in Duchenne, which has been helpful in the management of countless patients in a multitude of institutions unfamiliar with these events. PPMD will continues to disseminate knowledge and resources to families and medical providers as needed, and will continue to collect data to help inform optimal management, and hopefully future prevention, of these events.
• More investment and focus is needed from government resources. PPMD has ensured the MD-CARE Act reflects the needs for cardiac care and treatment. Private/public partnerships with NIH and CDC have produced the aforementioned Care Considerations, with guidelines for Duchenne cardiac care, as well as workshops and meetings focused on areas of care and research where there is little knowledge or consensus. PPMD will continue to advocate with Congress for more funding and focus for the agencies that touch Duchenne and the Duchenne heart.
• Carrier research is an unmet need in Duchenne research and care. PPMD funded the Carrier Study in 2017 which is ongoing. One aspect of this study is a longitudinal evaluation of carrier hearts. Data is being collected and we are hopeful that a published report is forthcoming so that we can better understand the impact of Duchenne on the heart of carriers.

Expanding Our Investment in the Heart

The more questions we answer, the more questions there are to ask – questions PPMD is exploring by supporting the work of cutting edge research. With your help and support of our expanding Cardiac Initiative, we can continue to explore heart health in Duchenne by supporting projects that:

• Study the effects of current gene therapy on the heart to better understand the effect it is having on the cardiac system
• Explore potential gene therapy technology that could directly affect heart health, since most therapies focus on skeletal muscle rescue
• Understand the data collected with cardiac MRIs and how we can use that knowledge to better characterize and ultimately prevent dystrophin cardiomyopathy
• Continue to focus on the cardiac health of carrier females, so that everyone in a family affected by Duchenne is cared for and treated

Science is about finding answers. That is why we have continued to expand our Cardiac Initiative – a program that to date has invested $5 million into cardiac research and care in Duchenne.

Please join me and PPMD’s SVP of Clinical Care, Kathi Kinnett, on Tuesday, December 11 at 2pm eastern for a webinar to discuss these projects and the state of cardiac research with the researchers and clinicians pursuing treatments.

Today we are at a critical point and we hope you will consider donating to PPMD to further expand our robust exploration and investment into research.

Join the fight to save the heart. Join the fight to end Duchenne.