Day after day, we hear the heartbreak of Duchenne: a 7 year-old boy with the new discovery of decreased function and significant fibrosis, a 9 year-old boy with more than a 10% decrease in function from just 1 year ago, an 11 year-old boy dying from heart failure.
Even if you are doing everything right in terms of caring for your child, cardiac issues are not just possible, but likely. And while we can’t prevent all scenarios, we want to remind you of a few basic steps you should be incorporating in your child’s care. PPMD has published this critical information on cardiac care on our website, which includes:
Cardiac issues will affect every person with Duchenne. Since 2011, PPMD has dedicated more than $2 million to enhancing cardiac care and research. Currently, PPMD is sponsoring research focused on better understanding the cellular effect of the loss of dystrophin in the heart, as well as efforts to identify new targets of intervention and preclinical testing of novel and repurposed therapeutics. In addition, the clinical trials of both Tadalafil and Eplerenone remain ongoing. We understand that research is agonizingly slow and we are doing everything in our power to identify BETTER therapeutic targets and to bring those therapies from the bench to the bedside FASTER.
But what are we doing NOW?
Now, we are working on optimizing the cardiac care of every patient with Duchenne. Now, we are assisting in the development of cardiac research strategy and funding. Because we realize that the enhancement of knowledge and care related to cardiomyopathy is your main concern, PPMD is now in discussions with the National Heart Lung and Blood Institute (NHLBI, an institute within the NIH) to develop a working group of expertise in the cardiomyopathy of Duchenne. The purposes of the working group will include evaluating current evidence of the management of cardiomyopathy in Duchenne, identifying gaps in knowledge, and developing a research strategy around those gaps. We have proposed that the working group address several key areas, including: the natural history of cardiomyopathy and Duchenne; cardiac diagnosis and monitoring; optimal cardiac treatments; assistive devices; the consideration, when appropriate, of cardiac transplant; and the identification and funding of future research. In considering the potential agenda, we hope that the working group might consider answering some important questions.
Co-chairs have been identified and have committed to this important effort, and working group members are in the process of being identified. The first meeting of this workshop should be in the first half of 2014. PPMD is proud and happy to be in partnership with the NHLBI in this important effort. We are doing our very best to end the heartbreak of Duchenne: better, faster and now.