There is a growing movement in biotechnology and pharmaceutical companies to expand horizons beyond developing the next cholesterol lowering drug or blood pressure medication, and instead to seek treatments for ‘rare’ diseases – those that affect fewer than 200,000 Americans, and which include neurofibromatosis (collectively NF1, NF2 and schwannomatosis affect around 100,000 Americans). Genzyme has headed the pack for many years on the rare disease front, developing enzyme replacement treatments for conditions such as Fabry Disease and Gaucher Disease; and PTC Therapeutics has recently taken on rare diseases like cystic fibrosis and muscular dystrophy, as well as NF2. Now, pharma giant Novartis has just received approval of the drug Ilaris for a rare inflammatory condition, after carefully pursuing the drug’s development along the molecular pathways of the disease. Novartis (with whom the Foundation is collaborating as part of our NF Preclinical Consortium to find potential NF1 and NF2 drug treatments) are also reporting that more candidate rare disease treatments are in their pipeline. Inevitably this new tack is driven by business acumen; the market for ‘me too’ (copycat) versions of existing medications is dwindling as both US and European insurers tighten the screws on what they will pay for – and rare diseases, most with no available drug therapy, represent a fresh market to biotech and pharma. But there is no doubt that this is a positive swing and a hopeful sign for those with neurofibromatosis and the thousands of other orphan diseases that today have no approved drug treatment.
Novartis Shifts Focus to Rare Diseases. Wall Street Journal, December 21. (subscription required)
