Rare disease drug development often begins with an investment from a patient organization. One leader in that area of drug development is Parent Project Muscular Dystrophy (PPMD), a non-profit organization focused on ‘ending’ Duchenne muscular dystrophy (DMD). The organization announced it will reward H. Lee Sweeney, PhD, and his research team at the University of Florida (Gainesville) $1 million to continue their research in developing a gene therapy that will address the cardiomyopathy that occurs in DMD and Becker muscular dystrophy (BMD).
DMD and BMD are due to mutations in the DMD gene. The DMD gene codes for the protein dystrophin. Dystrophin is mainly made in skeletal and heart muscle cells. Currently, most gene therapies in development are focused more on the skeletal muscle aspects of DMD but it is the cardiomyopathy that generally is the leading cause of death in these patients.
Patients with DMD typically die in their twenties, most commonly due to heart disease in their second or third decade of life. BMD is a milder form of the condition, but those boys also tend to have cardiomyopathy that begins in their teen years.
The research by Dr. Sweeney group will be testing an AAV vector containing two transgenes to restore calcium handling and prevent mitochondrial dysfunction and will hopefully complement other gene therapies in development that are focused on restoring dystrophin to skeletal muscles.
Pat Furlong, CEO of PPMD, said, “Heart issues don’t just affect some people with Duchenne; they affect ALL people with Duchenne. And while we have improved cardiac care in Duchenne, we still need treatments that repair our children’s hearts. Since our organization began 25 years ago, we have been asking questions and trying to better understand the effect of this disease on the heart. Chris and Patrick died of heart failure, so the heart is at the center of Duchenne for me. That’s why I am extremely proud to announce this $1 million investment into a gene therapy with the potential to heal the hearts of our loved ones. I am grateful to Dr. Sweeney and the amazing team at University of Florida, as well as the families in our community who believe in our mission and gave generously to help fund the fight to end Duchenne.”
Dr. Sweeney added, “These are exciting times for gene therapies – especially for gene therapies for Duchenne and Becker muscular dystrophy. However, while the current therapies may potentially help the skeletal muscles of patients, there is more to learn and to develop before we can be confident that we are doing all we can for the hearts of patients. The funds provided by PPMD will allow us to move faster toward the goal of creating the best possible gene therapy for the hearts of people with Duchenne and Becker.”
The cardiomyopathy observed in boys with DMD and BMD is similar to the more common dilated cardiomyopathy but it does have a few differences that make it unique, and in that sense, ripe for novel treatment options.
For more information about DMD, visit checkrare.com/duchenne-muscular-dystrophy/
