Jennifer McNary, rare disease advocate, looks back at the Sarepta AdComm for Exondys 51 in 2016. She also discusses the role of the patient advocate.
Duchenne muscular dystrophy occurs in one out of every 3,600 male infants, and it’s even rarer in girls. The deadly diagnosis is due to an inherited gene mutation, although it can be caused by a random gene mutation, too.
Boys with the condition don’t produce the protein dystrophin, so their muscles are weak and can be easily damaged. Children can appear to develop slowly, and are usually diagnosed by the age of 5. Many with Duchenne rely on wheelchairs as their muscles quickly lose strength, and begin to have difficulty breathing around age 20. Many die from lung disorders within a few years after that.