A one-time gene therapy that costs half a million dollars sounds crazy until you add up what it costs to treat some diseases over a lifetime.
By Emily Mullin
Why: Understanding molecular pathways of rare diseases can shed light on common ones.
Key innovation: Introduced the first medication for patients with benign brain tumors associated with a particular genetic disorder; now the drug is approved for treatment of kidney cancer and is in testing for other types.
Last fall, the U.S. Food and Drug Administration approved Novartis's drug Afinitor as the first pharmaceutical treatment for patients with benign tumors associated with a rare genetic disorder. The company has also demonstrated success in a small clinical trial of an experimental drug designed to treat Fragile X Syndrome, a genetic disorder that can cause mental retardation and autism.
Afinitor was approved for patients with subependymal giant cell astrocytoma (SEGA), a benign brain tumor associated with tuberous sclerosis (TS), who require therapeutic intervention but are not candidates for curative surgical resection. TS is a genetic disorder affecting approximately 25,000 to 40,000 people in the US and SEGAs occur in up to 20% of patients with TS.
Rather than focusing almost entirely on drugs that will have large markets, scientists at Novartis's Institute for Biomedical Research are examining the molecular pathways of rare diseases in the hopes that these can, in turn, shed light on common ones. For example, the company developed a treatment for an auto-inflammatory disorder that occurs in 1 out of 1 million people worldwide, but the drug targets a pathway that is also responsible for attacks of gout, a form of arthritis that affects tens of millions of people worldwide.
Challenges and Next Steps:
Although the company is satisfied for now in allowing its biomedical research and development team work on disorders that have relatively few sufferers, eventually the company needs to leverage this research to create drugs that treat more common genetic disorders like hypertension or diabetes.