01 March 2019 P.M.Fornasari

Rare diseases affect fewer than roughly five in 10,000 people worldwide. Approximately 80% of rare diseases have identified genetic origins, and are often debilitating; about 30% of children with a rare disease will die before their fifth birthday. There are roughly 30 million people in the U.S. living with a rare disease and more than 300 million people worldwide. Taken as a whole, there are nearly 7,000 different rare diseases currently identified; only about 5% have an FDA-approved treatment. Significant progress in the fields of gene and cell therapy have opened up the possibility of durably treating and potentially curing many of these rare genetic diseases. The premise behind these therapies is relatively straightforward: patients with the rare disease gene are producing too much of, not enough of, or a diseased version of a particular protein or chemical, and the therapy is intended to add in or replace the proper version of that gene. Current therapeutic approaches include gene and cell therapy: In gene therapy, a delivery vehicle (often an engineered virus) will deliver a correct version of the gene of interest or will silence the diseased gene in a patient’s cells. In cell therapy, an engineered cell line is used to introduce a properly functioning gene in order to deliver the intended therapeutic effect.

 Key features of the report include financings in this area, a breakdown of the clinical pipeline by trial phase, technology type, and indication, as well as commentary from John Gray, Senior Vice President and Chief Scientific Officer at Audentes Therapeutics, and Tim Hunt, Senior Vice President of Corporate Affairs at Editas. Data and graphics from the report are available on line here

http://alliancerm.org/wp-content/uploads/2019/02/Rare-Disease-Report-2019-FINAL.pdf