Duchenne Muscular Dystrophy (DMD) is a severe genetic neuromuscular disease that affects 1 in 3,500 boys with an estimated patient population of 50,000 boys in the developed world.
It is caused by an alteration (mutation) in a gene, called the DMD gene that can be inherited in families in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. One in three cases are due to a spontaneous mutation where there is no family history of the disease.
Individuals who have DMD have progressive loss of muscle function and weakness in their early childhood. This progressive muscle wasting typically leads first to loss of ambulation before 10 years of age. It eventually spreads to the arms, neck and other areas. Later in the twenties, this progresses to complete paralysis and increasing difficulty in breathing due to respiratory muscle dysfunction requiring ventilator support as well as cardiac muscle dysfunction leading to heart failure. Currently, there is unfortunately no cure for this disease.
The Dystrophin protein by Dr. Jiri Mareda
As a private non-for-profit organisation, we strive to uncover the potential of existing molecules to address severe therapeutic unmet needs in rare diseases, thus giving better chances to existing drugs to reach these underserved patients.