Glyn Edwards of Summit Therapeutics discusses endpoints of Duchenne muscular dystrophy (DMD) clinical trials. DMD is one of the most common, fatal genetic disorders diagnosed in children around the world. DMD is an X-linked disease, meaning that it predominantly affects males, and it results in the progressive wasting of muscles throughout the body. The disease has an estimated incidence of 1 in 5,000 and a patient population in the developed world of approximately 50,000.
Approximately two thirds of new DMD cases are due to inherited mutations with the remaining one third resulting from spontaneous mutations where there is no family history of the disease.Our utrophin modulation programme is developing oral, small molecule drugs that modulate the production of a protein call utrophin. Utrophin is a naturally occurring protein that is functionally and structurally similar to dystrophin. Utrophin is produced during the early stages of muscle fibre development but is switched-off in maturing muscle fibres, at which point dystrophin is produced to perform the same functional role. When a muscle fibre is damaged, utrophin is also produced during the early stages of the repair mechanism.