Capricor Therapeutics Begins BLA Submission for Deramiocel to Treat DMD Cardiomyopathy

Duchenne muscular dystrophy (DMD) is a rare genetic disorder characterized by the progressive weakening and wasting of muscles, affecting skeletal, smooth, and cardiac muscle tissues. The underlying cause of muscle damage is the absence of the sarcolemmal protein dystrophin due to variations in the DMD gene located on Xp21.2. Symptoms of DMD typically manifest in early childhood, with affected boys often experiencing delayed walking, typically after 18 months, along with speech and developmental delays. Individuals with DMD may also face autism and behavioral issues, including ADHD, anxiety, and obsessive-compulsive disorder. Unfortunately, untreated children with DMD rarely achieve the ability to run or jump. The condition progresses rapidly, leading to a characteristic waddling gait and a positive Gowers sign. Climbing stairs becomes challenging, and frequent falls occur. Independent walking is typically lost between the ages of 6 and 13, with an average age of 9.5 in non-steroid treated cases. Once ambulation is lost, joint contractures and scoliosis develop rapidly, and untreated patients typically succumb to respiratory failure or cardiomyopathy in their late teens to early twenties. Diagnosis of DMD is suspected based on clinical presentation, family history, and laboratory findings, particularly elevated serum creatine kinase (CK) levels, often 100-200 times the normal range. Genetic testing is the definitive method and involves multiplex-ligation dependent probe amplification (MLPA) for detecting exon deletions and duplications and full gene sequencing to identify small deletions, duplications, non-sense mutations, or point mutations. Differential diagnoses include severe Becker muscular dystrophy and limb-girdle muscular dystrophy. The gold standard treatment for DMD involves corticosteroids such as prednisolone, prednisone, or deflazacort. These should be initiated early or when the child’s motor skills plateau, typically around 4-5 years of age. Despite advancements in management and treatment, DMD has a severe prognosis, significantly reducing life expectancy, with death occurring in the third to fifth decades of life.

• The global prevalence of DMD is estimated at 7.1 cases per 100,000 males and 2.8 cases per 100,000 in the general population. Additionally, the birth prevalence of DMD worldwide stands at 19.8 per 100,000 live male births.