Emerging discoveries offer opportunities for uncommon genetic disorders

Groundbreaking therapies are on the horizon as scientists explore new treatment options for rare genetic disorders, according to a new report by healthcare experts GBI Research.

The new report looks at Cystic Fibrosis (CF), Duchenne Muscular Dystrophy (DMD), Fabry disease and Pompe disease, which are all chronic, degenerative genetic disorders – fatal if left untreated. DMD is characterized by a decline in muscle function, leading most patients to die in their mid-twenties, while CF causes irreversible damage to lung tissue. Existing treatments are able to prolong life or reduce symptoms, but are not disease-modifying, and are therefore unable to significantly alter the path of the disease. Cures are therefore desperately sought, while drug treatments to counter symptoms remain a lucrative market.

According to the report, enzyme replacement therapies for Pompe and Fabry disease currently command prices of around $300,000 a year per patient. Despite serving very low patient populations, enzyme replacement therapies have provided an important boost to the rare diseases market, not only in providing revenue, but in demonstrating their potential to other companies. The ability to price orphan drugs highly has encouraged the interest of large pharmaceutical companies, as the potential in this medical sector has become apparent.