Developing a New Diagnostic for a Rare Disease to Fuel Clinical Trials and Build a Market

MODERATOR: Alistair Smith

Many of the 7,000 rare diseases worldwide lack a standardized diagnostic test. Without a reliable diagnostic test, most patients are left unable to get a proper diagnosis, access to potential treatment options and management of disease.

This session will provide a case study of a collaboration between a pharma company and a national diagnostics lab that led to the commercialization of a quantitative diagnostic test for HDV. HDV infection leads to the most severe form of human viral hepatitis with an estimated 300,000 patients infected in the U.S. and Western Europe, and 15-20 million HDV-infected patients in the rest of world. The availability of this test will support HDV patient identification, quality of HDV patient care and development of treatments for HDV infection. 

This session will also provide insights into how pharma companies can work with patient advocacy groups to educate physicians and patients about new diagnostics and encourage testing.