Unmet Needs are in the Genes -- Treatment Options for Rare Genetic Disorders

Genetic disorders known as Lysosomal Storage Diseases, including Gaucher disease, Fabry disease and Pompe disease, continue to be an area of high unmet medical need.

According to physicians, it’s challenging to diagnosis these diseases and many patients often go misdiagnosed.

Physicians push for newborn screening since early detection is key to treating these life-threatening diseases. However, most physicians admit that treatments are often provided on a “learn as you go” basis. Physicians monitor patient and family history, as well as the effects of the treatments currently available. But, how would new treatments affect the market share?

Physicians today agreed that new treatment options (a.k.a. competition) would increase the price of treatments, but newer agents would have to show remarkable improvements to justify switching a patient from his or her existing therapy. Companies in this unique field are hopeful that new therapies would help better treat these rare diseases and aim to price treatments accurately so they can continue to profit and develop newer and more effective treatment options.