Rare diseases

As a responsible corporate citizen, Novartis has a duty to meet the needs of as many patients as possible. This includes undertaking research for new drugs to treat rare diseases - diseases which have been overlooked due to the high cost of research and development and the lack of a wide market. Novartis has already made major contributions to the treatment of rare disorders, for example, Gleevec® has been developed to treat a rare form of leukemia (CML), Sandostatin® is used to treat a rare form of carcinoid tumors and Exjade® is used to treat iron-overload in thalassemia.

Developing new medicines for rare disorders is an important part of the research strategy of the Novartis Institutes for BioMedical Research (NIBR). The idea is to test new medicines in “proof-of-concept” studies that include patients with well-defined, often rare and genetic diseases for which the disease mechanism is well understood. We have discovery and development efforts in several 'niche' diseases such as Muckle Wells Syndrome, Tuberous Sclerosis, and Cystic Fibrosis.

Muckle Wells Syndrome, for instance, is an inherited disease caused by a rare genetic mutation. It affects 10 000 people worldwide. The disease is characterized by a range of symptoms, from fever and chills to swollen, painful joints, hives and itchy skin. One of the disease's severe complications, amyloidosis, is often fatal.

We believe our understanding of disease pathways and mechanisms will lead to novel therapies for treating not only 'niche' diseases but other related diseases. If we can find a treatment for Muckle Wells Syndrome, for example, it may also help us find treatments for more common diseases, such as rheumatoid arthritis - which afflicts nearly 10 million people worldwide.

Our approach favors long-term progress over short-term gain. Ultimately, we believe it is an approach that will provide the greatest benefit to patients.