‘Orphan drugs’ in need of a research home

There are more than 6,000 known rare diseases, cumulatively affecting 6 to 8 per cent of the world’s population. Canada is one of the few developed countries without a national “orphan drug” program to protect rare disease patients from exorbitant drug costs.

Public debate over government funding for these drugs has been stimulated by a number of compelling patient stories brought to light by the media, but most Canadians remain unaware of an even more important disparity between common and rare diseases in this country — the availability of funding for research.

Far from worrying about expensive therapies, patients receiving a rare diagnosis are shocked to learn that there is scarce scientific knowledge about the causes and consequences of most of these diseases, and often little or no ongoing medical research to bridge these gaps.

It’s no surprise that government agencies want to fund projects that affect the health of the greatest proportion of the population, so research funding is heavily oriented toward common diseases.

Small patient populations also make it difficult for researchers to study an adequate number of patients to reach scientifically valid conclusions. As a result, even basic knowledge about many of these diseases is lacking. And even when aspects of a disease are well understood, the pharmaceutical industry often opts out because development costs are difficult to recoup from the small number of potential recipients.

Other governments have addressed this inequity. In 1982, the U.S. Food and Drug Administration established the Office of Orphan Products Development to promote development of products for the diagnosis and/or treatment of rare diseases. The Orphan Drug Act, passed in 1983, created financial incentives such as tax credits and exclusive marketing periods to encourage rare disease drug development. Since the law was passed, more than 300 rare disease products affecting more than 14 million Americans have come to market, compared to fewer than 10 products in the decade prior. More recently, the Rare Diseases Act, passed in 2002, established the Rare Diseases Clinical Research Network, with a budget of $71 million (U.S.) to fund clinical rare disease studies.

Similarly, European Union (EU) funding allocated to rare disease projects increased from 64 million euros in the 1998-2002 budget period, to 230 million euros in the most recent period (2002-2006). The 1999 European Regulation on Orphan Medicinal Products guaranteed an exclusive marketing period, facilitated EU-wide drug registration, and called for tax credits by individual member states for all orphan products. Individual EU countries were not far behind, with Germany committing 25 million euros to a new rare disease research strategy in 2003, Spain allocating 11.9 million euros in 2003, and France funding a 7.9 million euro rare disease consortium in 2002, and the 20 million euro French National Plan for Rare Diseases between 2005-2008.

Other developed nations have also risen to the challenge. Singapore approved an Orphan Drug Act 1991, the Australian Orphan Drug Policy was set up in 1997, the Taiwanese Rare Disorder Prevention/Treatment and Pharmaceutical Law was implemented in 2000, and the Japanese Orphan Drug Regulation was approved in 1993.

The important reality that is often forgotten in the debate about drug coverage for rare diseases is that we still know little about the causes and effects of most of these diseases, let alone their treatment.

Canada remains one of the few developed countries without a comprehensive rare disease policy to drive research and drug development in these diseases. Based on a belief that our society’s moral obligation is to protect each individual’s rights, the Canada Health Act upholds the principle of “non-abandonment,” whereby all Canadians should have “timely access to health services on the basis of need, not ability to pay” and that “health-care services available to Canadians are of high quality, effective, patient-centred and safe.”

The right to effective and high-quality care cannot be fulfilled without addressing the fundamental gap in access to scientific advancement and research in rare diseases.

It is time for our federal leaders to step up and join the rest of the developed world in legislating a comprehensive strategy to advance orphan disease research.

Written for Toronto Star by Dr. Samir Gupta.