One in twelve Canadians suffers from an “Orphan Disease” (OD). These are diseases that have not been adopted by the pharmaceutical industry because they affect a small portion of the population, (fewer than 200,000 people), providing little financial incentive for the private sector to make and market new medications to treat or prevent. The IGNITE project aimed to discover genes responsible and develop new therapies for orphan diseases in a shorter time, at reduced costs.
Four new genetic tests for ODs are being implemented to allow for more rapid and accurate OD diagnosis and counselling. In addition, three ODs have potential treatments: a drug for congenital sideroblastic anemia is undergoing a Phase 2 clinical trial, a drug for inherited Parkinson’s disease is at the optimization stage, and inherited childhood blinding disorder familial exudative vitreoretinopathy has a validated drug target that is moving toward drug discovery. Three manuscripts were produced exploring the need for alternative policy models to encourage orphan drug R&D; the problem of orphan drug prices, and a comparison of access to orphan drugs in Canada and the United States. In addition, this project resulted in 4 provisional patents and a spin off company, NovaSight Therapeutics, which focuses on the treatment of childhood blinding disorders. Several patent licenses are under negotiation with external private sector entities.