“Now that the science has ripened to the point that it can help many thousands of children with orphan diseases, Akashi has built a bridge to efficiently cross the “valley of death” that has plagued drug development and biotech for decades.”
– Dr. Benjamin Seckler, co-founder
Duchenne Muscular Dystrophy
(DMD) is a rare genetic disease that affects approximately one in 3,600 boys worldwide¹. It is the most common fatal genetic disorder diagnosed in childhood yet no curative treatment exists. The mean age at the time of death is approximately 19 years.
DMD causes muscles to gradually weaken over time. Because the disease is inherited from the mother as an X-chromosome –linked abnormality, it affects boys almost exclusively. Thirty percent of cases are the result of a spontaneous mutation, so there is no family history of DMD in such cases and its eradication through genetic counseling is therefore impossible.
Boys with DMD are unable to make functional dystrophin, a critical protein for muscle function. Without it, muscles degenerate and weaken, resulting in a cascade of progressively debilitating symptoms that often manifest first as frequent falls and difficulties climbing or getting up from the floor. Diagnosis of DMD most often occurs by age 4 when a child’s gross motor abilities lag severely behind his peers. The disease gradually weakens the skeletal muscles in the arms, legs, and trunk. Muscle weakness leads to contractures of the joints and curvature of the spine (scoliosis), which worsen with lost of ambulation. By their early teen years, most boys require the use of a wheelchair. Eventually, the disease affects the respiratory muscles as well as the heart. Many patients later require ventilators to assist with breathing. Survival beyond the early 30s is rare.
There is no cure for DMD. Corticosteroids such as Prednisone, the current standard of care, significantly delay do not stop progression of the disease and are associated with unwanted side effects. While additional therapies and treatments exist to alleviate symptoms, they do not alter the ultimate outcome of the disease.
Patient associations have played a pivotal role in progressing DMD research. Akashi’s founders, Charley’s Fund and Nash Avery Foundation, alone have invested more than $25M the past decade. Their commitment coupled with that of many other DMD foundations has helped shape the search for effective treatments from multiple fronts including gene repair, drug treatment and even stem cell therapy.
¹ http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001724/ . Reviewed 2.1.12. Obtained 1.17.13