The cornerstone of Parent Project Muscular Dystrophy’s mission is to identify and support promising Duchenne muscular dystrophy research that can impact all those living with Duchenne now, during their lifetime. No one in this community will deny the importance of a robust research program, and for 24 years, PPMD has supported innovation we believe has the possibility to treat every single person living with Duchenne.
In this section you will find basic information about various research strategies for potential treatments, the drug development process, and specific drugs in the therapeutic pipeline now. You will also find a link to current and archived research news items.
Since 1986, when the gene that produces dystrophin was discovered, the race to find treatments to end this devastating disease has been ongoing. Duchenne is a “dystophinopathy,” and is one of two diagnoses (Duchenne and Becker muscular dystrophy) that is caused by a mutation in the gene that makes a protein called dystrophin. Without dystrophin, muscles degenerate much more quickly and are not able to function or repair themselves properly.
Dystrophin is a shock absorber. Without this shock absorber, the muscle and muscle membrane becomes fragile and small breaks occur in the membrane. These breaks allow calcium and other molecules to enter into the muscle cells and destroy them. When muscle cells die, the body’s response is to activate inflammatory cells to ‘clean’ up or remove the damaged cells. Since there are many muscle fibers and they are breaking and repairing at different times, an individual with Duchenne lives in a constant state of inflammation. Treating Duchenne will require a two-prong approach:
- Restoring or replacing dystrophin
- Treating Duchenne symptoms (reducing fibrosis and inflammation)
Some of the material here may seem daunting at first, but it will increase your understanding of the disorder, and what is at stake as scientists search for treatments that will ultimately end Duchenne.