An experimental drug called Eteplirsen might be helpful for boys who have Duchenne muscular dystrophy. A small study was done that seems to indicate that the drug helps slow the progression of the disease. The FDA would need to approve of Eteplirsen before the drug can be sold on the market.
Muscular dystrophy is a disease that is characterized by progressive muscle weakness and wasting. There are nine different types. Duchenne muscular dystrophy is the most common form of the disease in children.
According to the Mayo Clinic, Duchenne muscular dystrophy results from an absence of dystrophin, which is a protein that keeps muscle cells intact. It mostly affects boys. The boys inherit the disease from an X-linked recessive gene that they receive from their mothers.
Symptoms of Duchenne muscular dystrophy often appear before the child turns six years old. It is possible for symptoms to be noticed in early infancy. Symptoms include a progressive muscle weakness in the legs and pelvis which is associated with a loss of muscle mass (also called wasting). The majority of the wasting occurs in the lower half of the body, but can occur in muscles in the upper body as well (but generally not as severely). The result is the loss of the ability to walk.
A company that is now called Sarpeta, (but used to be called AVI BioPharma) makes a drug called eteplirsen. A small study was done with 12 patients, all of whom were boys who had Duchenne muscular dystrophy. Each boy in the study still had the ability to walk. Four of the boys received a placebo, and four received a high dose of Eteplirsen. Four boys received a lower dose of the drug.
The researchers measured how far the boys could walk in six minutes. This was measured at the beginning of the trial, and again after 48 weeks of treatment. The boys who got the Eteplirsen were able to walk, on average, 21 meters farther than the boys who were getting the placebo.
There are some issues with this study. It is small, so it might not be very representative of how well the drug works. Two of the boys who were on a lower does of the drug rapidly lost the ability to walk, even though their muscles had a higher level of dystrophin in them then they had before the study.
Before this drug can go on the market, the Food and Drug Administration will have to approve it. There is potential that FDA will require more studies to be done before that will happen.
Image by David Michael Morris on Flickr