Rare diseases: Canada’s “research orphans”

➣ Although definitions vAry by jurisdiction, diseAses that affect approximately 1 in 2000 people are considered rare. 1 Canada is one of only a few developed countries without a national " orphan drug " program to protect patients with rare diseases from exorbitant drug costs. Public debate concerning government funding for these drugs is periodically stimulated by stories of patients who are deprived of life-sustaining therapies because of cost. However, most Canadians remain unaware of another important disparity between common and rare-disease care in this country: namely, the availability of research funding. Above and beyond worrying about expensive therapies, patients diagnosed with a rare disease are often surprised to learn that there is limited scientific knowledge about the causes and natural history of their condition and little or no ongoing research. The reasons for this research gap are many. Public funding agencies have a mandate to improve public health, and so naturally favour grants that address common conditions. As a result, researchers with an interest in a rare disease who enter open grant competitions may be disadvantaged by the limited population-level impact of their potential findings. 2,3 Furthermore, the relatively small numbers of people affected by a given rare disease make it difficult for researchers to recruit and study an adequate number of patients to reach scientifically valid conclusions. As a result, even basic knowledge about the diagnosis, causes, and consequences of many of these diseases is lacking. 3 Even when these aspects are well understood and drug development can be considered, the pharmaceutical industry often opts out on the grounds that development costs are difficult to recoup from the small number of potential users of a new drug for a rare disease. 4 In most developed nations, governments have sought to target this inequity through legislation. Since the establishment of the Office of Orphan Products Development by the US Food and Drug Administration (FDA) in 1982, various national rare disease laws, policies , and programs have been established successfully in many countries around the world. 1,5–17 Some of the most notable of these are outlined in Table 1. The impact of these programs has been significant. Since the US Orphan Drug Act was passed in the United States in 1983, over 300 rare disease products, affecting over 14 million Americans, have come to market, as compared with fewer than 10 products in the previous decade. 7 Between 2006 and …