When it comes to research into rare diseases – which affect about one in 12 Canadians, two-thirds of them children – Canada has become a global leader, with private- and publicly-funded projects underway that could transform the way physicians treat rare diseases.Just last month, Ottawa together with Brain Canada announced a new $10.7 million grant to launch the Canadian Open Neuroscience Platform (CONP). Montreal has long been a hub for research into brain disorders, which affect an estimated 3.6 million Canadians, but until now it has been difficult to share information from labs across the country. To address this, the new platform aims to connect all brain scientists across Canada and, eventually, the world. CONP is expected to improve the chances of coming up with new treatments for diseases ranging from neurological conditions like schizophrenia to rare degenerative illnesses like Alpers' Disease.While the scientific foundation for fighting rare diseases might be in place, the policy side hasn't caught up. Barriers in accessing drugs and other treatments continue to pose extraordinary challenges to patients, leading to higher mortality rates and greater cost-burden on families.Indeed, compared to other developed countries, Canada's authorities are often slow to approve new drugs resulting from this research. New treatments have to undergo a lengthy and often labyrinthine review process through different bureaucratic bodies before they can be introduced to the market. The process begins with Health Canada; once it approves the medication, it is reviewed by the Canadian Drug Expert Committee of the Canadian Agency for Drugs and Technologies for Health (CADTH). Through the pan-Canadian Pharmaceutical Alliance (p-CPA), CADTH begins negotiations with pharmaceutical companies on the price of the drug. It is then up to the provinces to decide how – and if – to fund the drug through public funds.The prevalence of these diseases, the price of the medications and the expected impact of the treatment are the biggest factors in these decisions. And since rare disease medicines are often costly to develop, lack a broad patient base (meaning they are unlikely to be profitable), and have high prices, government funding is critical in order for patients to afford these treatments.However, largely due to these drugs' costs, federal or provincial governments more often than not refuse to provide public coverage. The case of Strensiq, a drug alleviating soft bone disease (hypophosphatasia, or HPP), is a pertinent example. The drug was approved by the p-CPA nearly three years ago, but owing to its exorbitant price tag, was excluded from public drug plans. It was only in February that Alexion Pharmaceutical Inc., the company that markets the drug, reached an agreement with the p-CPA that the drug could finally gain coverage after being on the market for about a decade. With annual costs exceeding $1 million per patient, this long-overdue decision came three years after the drug obtained funding in the US and one year after it got the green light in the UK.In a similar case, Spinraza was denied coverage by CADTH despite receiving approval from Health Canada and after it was proven to be highly effective in treating Spinal Muscular Atrophy (SMA), a genetic disorder that destroys neurons in the spinal cord. Already, 15 countries – among them Sweden, France, Greece, Germany, the UK and US – have agreed to reimburse the medication, most often through inclusion in public health schemes. However, CADTH decided that the cost-benefits were unfavorable and advised provinces not to cover it, except in the most severe cases. As a result, this limited treatment to a small group of patients suffering from Type 1 SMA – who are typically diagnosed before they are seven months old – and cut off patients diagnosed with the less-severe yet still debilitating Type 2.Now, the only hope for patients who do not meet the criteria laid out by CADTH is that their provincial governments will take the initiative to negotiate for coverage on their behalf. In British Columbia, for instance, the Drug Benefit Council, an independent advisory group, is currently reviewing whether Spinraza should be included for coverage under PharmaCare. In the meantime, certain patients have access to treatment because they are in clinical trials, but it remains unclear if they can continue to do so depending on the provincial government's decision.Given authorities' lengthy and often opaque decision-making process, the final outcome can be difficult to predict. Take the recent cases of Orkambi, which treats cystic fibrosis, and Soliris, which treats atypical hemolytic uremic syndrome. Previously, neither drug was approved for coverage in B.C., since both drugs were rejected by an expert committee that evaluates which drugs should be covered. Since then, Soliris has won approval for reimbursement on a case-by-case basis. However, that is not the case for Orkambi, which is not covered in B.C. or any other province. As a stopgap measure, certain patients are now receiving free medication from Orkambi's maker, Vertex. Yet on the whole, such uneven coverage can have a devastating impact on the lives of patients, leaving them in a constant state of uncertainty and worrying about their ability to access potentially life-saving medications.The underlying problem is the fact that Canada remains one of few developed countries without an orphan drug policy to provide pharma companies with incentives to apply for marketing approval in the country. Although Health Canada announced an Orphan Drug Regulatory Framework in 2012 to improve drug availability in the market, the legislation was left pending for years until it was quietly scrapped in October 2017. Health Canada even went so far as to completely pull orphan drugs from its regulatory plan and deleted all references to the Regulatory Framework – for reasons unknown – from its website.The fact is, without a sound strategy to improve availability of these specialized drugs, any new research innovations in the orphan drugs field will end up stalling. With more than 8 percent of Canadians suffering from rare diseases, it's time for Ottawa to create a viable orphan drug policy, develop a fast-track approval system, and bring an end to the opaque, two-tiered system of coverage that brings nothing but uncertainty to patients.Dr. Ruchi Chaube earned a Ph.D. in biochemistry and has lived and worked both in Canada and the U.S. for almost 12 years. She is an accomplished biomedical researcher with more than 10 years' experience gained at academic institutions. Since 2016, Dr. Chaube has been working as a freelance medical writer, using her scientific expertise, analytical ability, and writing skills to assist clients with scientific and medical communication projects directed at various audiences. To learn more about Dr. Chaube, visit her website at www.rcmedcom.com