Health Policies for Orphan Diseases: International Comparison of Regulatory, Reimbursement and Health Services Policies

Abstract

Access to drugs for rare diseases varies considerably, not only in terms of which drugs are reimbursed but also which patients get access. Five-year-old Luc has been diagnosed with MPS II (Hunter's Syndrome), a genetic disorder with progressive debilitating symptoms affecting the joints and major organs and, in some children, cognitive functioning. The good news is that there is an approved drug treatment that is effective in "slowing the progression of symptoms"; however, the pivotal clinical trials were only conducted with children over the age of five who had no cognitive impairment. While disease severity is hard to diagnose at an early age, his physician believes Luc has some cognitive impairment. Luc's ability to get access to treatment depends on where he lives.