Duchenne muscular dystrophy (DMD) is a genetic disease in which patients lack the protein dystrophin, which is critical for stabilizing muscle cell membranes. Without a functional dystrophin protein, muscle cells are susceptible to damage and progressively die. Patients experience progressive muscle weakness starting at an early age, loss of ambulation typically in the first decade of life, eventual respiratory and cardiac failure, and an abbreviated lifespan averaging less than three decades.
Although the impact of DMD on the skeletal muscles is easily observed, less obvious is its impact on the heart. As with skeletal muscle, the lack of functional dystrophin in heart muscle leads to an amplifying process of damage that triggers progressive scar tissue deposition. Eventually, the heart begins to fail as its pump function is overwhelmed by the body’s demands. Improvements in respiratory support have elevated the almost inevitable cardiomyopathy of DMD to the leading cause of death in this population. Approximately 15,000 to 20,000 boys and young men are living with the disease in the United States1 alone and approximately 275,000 worldwide are affected2. CAP-1002 has been granted orphan drug designation by the FDA for the treatment of DMD.
A growing body of preclinical data supports the use of CAP-1002 for the treatment of DMD-associated cardiomyopathy. Although much of this information has yet to be published, results presented at the 2014 Annual Meeting of the American Heart Association showed CDCs in preclinical mouse models to be effective in decreasing myocardial fibrosis, improving cardiac function, and inducing cardiomyogenesis, which is the regeneration of heart muscle. Improvements in exercise capacity of unexpected magnitude were also seen after CDC treatment in the preclinical mdx mouse model.
Click here to view a webcast on cardiosphere-derived cells for heart failure in Duchenne muscular dystrophy by Eduardo Marbán, M.D,Ph.D. – Director, Cedars-Sinai Heart Institute
We are currently evaluating CAP-1002 in boys and young men with DMD-associated cardiomyopathy in the Phase I/II HOPE (Halt cardiomyOPathy progrEssion in Duchenne) clinical trial.
1 Duchenne Muscular Dystrophy United States Prevalence Estimate
2 Duchenne Muscular Dystrophy World Wide Prevalence Estimate