For Industry
Duchenne muscular dystrophy: Charlie's Story
Chuck and his son Charlie visited OOPD and told their story of living with Duchenne muscular dystrophy (DMD). Charlie was diagnosed when he was 18 months old, and now at 11 years old describes his life challenges and goals.
DMD is a rapidly progressive form of muscular dystrophy. It is caused by an alteration in the DMD gene that can be inherited in families in an X-linked recessive fashion, but can also occur in people without a family history of DMD. Because of the way DMD is inherited, males are more likely to develop symptoms than females. The first symptoms typically appear before age 6 and may appear as early as infancy as a delay in motor milestones, including sitting and standing independently. There is ultimately progressive muscle weakness of the legs and pelvic muscles, which initially causes a waddling gait and difficulty climbing stairs and eventually leads to the use of a wheelchair. Muscle weakness also occurs in the arms, neck, and other areas, but not as severely or as early as in the lower half of the body. Muscle weakness and skeletal deformities can lead to breathing disorders, and cardiomyopathy (enlarged heart) which occurs beginning in the early teens in some, and in all after the age of 18 years. It is estimated that fewer than 20,000 boys in the United States have DMD.
Dr. Tim Coté, the Director of FDA Office of Orphan Products Development (OOPD) introduces Chuck and his son, Charlie, to the OOPD staff. Chuck talks about a family history of DMD and how Charlie was first diagnosed by elevated creatine phosphokinase blood levels.
Treatment for DMD is currently aimed at improving muscle strength and function with corticosteroids, physical therapy, braces, and wheelchairs and managing the symptoms of cardiomyopathy with anti-congestive medications. Charlie currently takes corticosteroids and sometimes uses a motorized chair if he needs to walk long distances. Here he talks about how his muscle weakness affects him and going to camp with other kids with DMD.
Charlie and his father talk about the school he attends and how his needs due to DMD are accommodated there.
Dr. Cote talks about FDA/OOPD special incentives for orphan products. OOPD has provided grant funding to support two studies of products to treat DMD, and has granted orphan designation for 15 products for the treatment of DMD. Chuck talks about hopes for his son Charlie’s future and finding a treatment for DMD.
For more information on FDA and rare diseases, please visit:
Developing Products for Rare Diseases & Conditions
For more information on DMD and clinical trials, please visit:
NCBI Duchenne muscular dystrophy
National Human Genome Research Institute: Learning About Duchenne Muscular Dystrophy
