Claudio Santos, MD, MBA of PTC Therapeutics describes his company’s current therapies focused on Duchenne muscular dystrophy (DMD), including Translarna (ataluren) in Europe and Emflaza (deflazacort) in the United States.
DMD is a progressive form of muscular dystrophy that occurs primarily in males. Muscle weakness is usually noticeable by 3 or 4 years of age and begins in the hips, pelvic area, upper legs, and shoulders. Most children with DMD use a wheelchair full time by age 13 years.
DMD is caused by mutations in the DMD gene. Ataluren is approved in Europe to treat boys with nonsense mutations in the DMD gene. Deflazacort is a corticosteroid that has been shown to reduce disease progression.
For more information about DMD, visit checkrare.com/duchenne-muscular-dystrophy/